Congenital adrenal hyperplasia caused by compound heterozygosity of two novel CYP11B1 gene variants View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2021-10-26

AUTHORS

I. Fylaktou, P. Smyrnaki, A. Sertedaki, M. Dracopoulou, Ch. Kanaka-Gantenbein

ABSTRACT

BackgroundCongenital adrenal hyperplasia (CAH) is an autosomal recessive disorder caused by pathogenic variants in seven genes involved in the cortisol and aldosterone biosynthetic pathway. The second most common cause, 11β-hydroxylase deficiency (11βOHD), is attributed to pathogenic variants in the CYP11B1 gene encoding for the enzyme 11β-hydroxylase (11βOH).Case presentationA 13-year-old girl was referred to the pediatric endocrinologist due to a syncopal episode. She is the third child of non-consanguineous parents. She presented with premature adrenarche at the age of 6 years and menarche at the age of 12 years. On physical examination, her height was 154.5 cm and weight 50 kg, while she presented with acne, hirsutism, clitoromegaly, and normal blood pressure. Laboratory investigation revealed increased androgen levels and poor cortisol response to the ACTH stimulation test. From the family history, the mother was diagnosed with CAH at the age of 10 years and was under treatment with methylprednisolone. Previous molecular investigation of the CYP21A2 gene was negative. Due to the increased androstenedione levels in the index patient, the suspicion of 11βOH was raised, and she was investigated for 11-deoxycortisol, 11-deoxycorticosterone, and CYP11B1 gene pathogenic variants. The patient and her mother were found to be compound heterozygous for two novel variants of the CYP11B1 gene.ConclusionWe present a case of CAH due to compound heterozygosity of two novel pathogenic variants of the CYP11B1 gene, emphasizing the importance of molecular investigation in order to confirm clinical diagnosis and allow proper genetic counseling of the family. More... »

PAGES

155-161

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s42000-021-00322-1

DOI

http://dx.doi.org/10.1007/s42000-021-00322-1

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1142162076

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/34697763


Indexing Status Check whether this publication has been indexed by Scopus and Web Of Science using the SN Indexing Status Tool
Incoming Citations Browse incoming citations for this publication using opencitations.net

JSON-LD is the canonical representation for SciGraph data.

TIP: You can open this SciGraph record using an external JSON-LD service: JSON-LD Playground Google SDTT

[
  {
    "@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json", 
    "about": [
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/06", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Biological Sciences", 
        "type": "DefinedTerm"
      }, 
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/0604", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Genetics", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Adolescent", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Adrenal Hyperplasia, Congenital", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Aldosterone", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Child", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Female", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Humans", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Hydrocortisone", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Mutation", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Steroid 11-beta-Hydroxylase", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Steroid 21-Hydroxylase", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "Division of Endocrinology, Diabetes and Metabolism, Center for Rare Paediatric Endocrine Diseases, First Department of Paediatrics, Medical School, National and Kapodistrian University of Athens, Agia Sophia\u201d Children\u2019s Hospital, Athens, Greece", 
          "id": "http://www.grid.ac/institutes/None", 
          "name": [
            "Division of Endocrinology, Diabetes and Metabolism, Center for Rare Paediatric Endocrine Diseases, First Department of Paediatrics, Medical School, National and Kapodistrian University of Athens, Agia Sophia\u201d Children\u2019s Hospital, Athens, Greece"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Fylaktou", 
        "givenName": "I.", 
        "id": "sg:person.01075461044.74", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01075461044.74"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Division of Endocrinology, Diabetes and Metabolism, Center for Rare Paediatric Endocrine Diseases, First Department of Paediatrics, Medical School, National and Kapodistrian University of Athens, Agia Sophia\u201d Children\u2019s Hospital, Athens, Greece", 
          "id": "http://www.grid.ac/institutes/None", 
          "name": [
            "Division of Endocrinology, Diabetes and Metabolism, Center for Rare Paediatric Endocrine Diseases, First Department of Paediatrics, Medical School, National and Kapodistrian University of Athens, Agia Sophia\u201d Children\u2019s Hospital, Athens, Greece"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Smyrnaki", 
        "givenName": "P.", 
        "id": "sg:person.010535746241.77", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.010535746241.77"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Division of Endocrinology, Diabetes and Metabolism, Center for Rare Paediatric Endocrine Diseases, First Department of Paediatrics, Medical School, National and Kapodistrian University of Athens, Agia Sophia\u201d Children\u2019s Hospital, Athens, Greece", 
          "id": "http://www.grid.ac/institutes/None", 
          "name": [
            "Division of Endocrinology, Diabetes and Metabolism, Center for Rare Paediatric Endocrine Diseases, First Department of Paediatrics, Medical School, National and Kapodistrian University of Athens, Agia Sophia\u201d Children\u2019s Hospital, Athens, Greece"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Sertedaki", 
        "givenName": "A.", 
        "id": "sg:person.01110547716.09", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01110547716.09"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Division of Endocrinology, Diabetes and Metabolism, Center for Rare Paediatric Endocrine Diseases, First Department of Paediatrics, Medical School, National and Kapodistrian University of Athens, Agia Sophia\u201d Children\u2019s Hospital, Athens, Greece", 
          "id": "http://www.grid.ac/institutes/None", 
          "name": [
            "Division of Endocrinology, Diabetes and Metabolism, Center for Rare Paediatric Endocrine Diseases, First Department of Paediatrics, Medical School, National and Kapodistrian University of Athens, Agia Sophia\u201d Children\u2019s Hospital, Athens, Greece"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Dracopoulou", 
        "givenName": "M.", 
        "id": "sg:person.01063263662.16", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01063263662.16"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Division of Endocrinology, Diabetes and Metabolism, Center for Rare Paediatric Endocrine Diseases, First Department of Paediatrics, Medical School, National and Kapodistrian University of Athens, Agia Sophia\u201d Children\u2019s Hospital, Athens, Greece", 
          "id": "http://www.grid.ac/institutes/None", 
          "name": [
            "Division of Endocrinology, Diabetes and Metabolism, Center for Rare Paediatric Endocrine Diseases, First Department of Paediatrics, Medical School, National and Kapodistrian University of Athens, Agia Sophia\u201d Children\u2019s Hospital, Athens, Greece"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Kanaka-Gantenbein", 
        "givenName": "Ch.", 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "sg:pub.10.1007/s12020-016-1189-x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1021102789", 
          "https://doi.org/10.1007/s12020-016-1189-x"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s12020-018-1691-4", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1107123978", 
          "https://doi.org/10.1007/s12020-018-1691-4"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/s13048-018-0450-8", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1107066790", 
          "https://doi.org/10.1186/s13048-018-0450-8"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/gim.2015.30", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1022229472", 
          "https://doi.org/10.1038/gim.2015.30"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s12020-012-9861-2", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1037040501", 
          "https://doi.org/10.1007/s12020-012-9861-2"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/s41586-020-2308-7", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1127885244", 
          "https://doi.org/10.1038/s41586-020-2308-7"
        ], 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2021-10-26", 
    "datePublishedReg": "2021-10-26", 
    "description": "BackgroundCongenital adrenal hyperplasia (CAH) is an autosomal recessive disorder caused by pathogenic variants in seven genes involved in the cortisol and aldosterone biosynthetic pathway. The second most common cause, 11\u03b2-hydroxylase deficiency (11\u03b2OHD), is attributed to pathogenic variants in the CYP11B1 gene encoding for the enzyme 11\u03b2-hydroxylase (11\u03b2OH).Case presentationA 13-year-old girl was referred to the pediatric endocrinologist due to a syncopal episode. She is the third child of non-consanguineous parents. She presented with premature adrenarche at the age of 6\u00a0years and menarche at the age of 12\u00a0years. On physical examination, her height was 154.5\u00a0cm and weight 50\u00a0kg, while she presented with acne, hirsutism, clitoromegaly, and normal blood pressure. Laboratory investigation revealed increased androgen levels and poor cortisol response to the ACTH stimulation test. From the family history, the mother was diagnosed with CAH at the age of 10\u00a0years and was under treatment with methylprednisolone. Previous molecular investigation of the CYP21A2 gene was negative. Due to the increased androstenedione levels in the index patient, the suspicion of 11\u03b2OH was raised, and she was investigated for 11-deoxycortisol, 11-deoxycorticosterone, and CYP11B1 gene pathogenic variants. The patient and her mother were found to be compound heterozygous for two novel variants of the CYP11B1 gene.ConclusionWe present a case of CAH due to compound heterozygosity of two novel pathogenic variants of the CYP11B1 gene, emphasizing the importance of molecular investigation in order to confirm clinical diagnosis and allow proper genetic counseling of the family.", 
    "genre": "article", 
    "id": "sg:pub.10.1007/s42000-021-00322-1", 
    "inLanguage": "en", 
    "isAccessibleForFree": false, 
    "isPartOf": [
      {
        "id": "sg:journal.1030758", 
        "issn": [
          "1109-3099", 
          "2520-8721"
        ], 
        "name": "Hormones", 
        "publisher": "Springer Nature", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "1", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "21"
      }
    ], 
    "keywords": [
      "pathogenic variants", 
      "adrenal hyperplasia", 
      "CYP11B1 gene", 
      "poor cortisol response", 
      "normal blood pressure", 
      "ACTH stimulation test", 
      "aldosterone biosynthetic pathway", 
      "gene pathogenic variants", 
      "compound heterozygosity", 
      "congenital adrenal hyperplasia", 
      "cases of CAH", 
      "non-consanguineous parents", 
      "novel pathogenic variants", 
      "BackgroundCongenital adrenal hyperplasia", 
      "proper genetic counseling", 
      "autosomal recessive disorder", 
      "Case presentationA", 
      "syncopal episodes", 
      "premature adrenarche", 
      "blood pressure", 
      "molecular investigations", 
      "androstenedione levels", 
      "stimulation test", 
      "physical examination", 
      "common cause", 
      "pediatric endocrinologists", 
      "androgen levels", 
      "family history", 
      "index patients", 
      "cortisol response", 
      "clinical diagnosis", 
      "third child", 
      "gene variants", 
      "recessive disorder", 
      "genetic counseling", 
      "patients", 
      "hyperplasia", 
      "age", 
      "CYP21A2 gene", 
      "weight 50", 
      "laboratory investigations", 
      "novel variants", 
      "mothers", 
      "years", 
      "CAH", 
      "methylprednisolone", 
      "hirsutism", 
      "endocrinologists", 
      "adrenarche", 
      "previous molecular investigations", 
      "acne", 
      "clitoromegaly", 
      "variants", 
      "cortisol", 
      "genes", 
      "menarche", 
      "suspicion", 
      "diagnosis", 
      "ConclusionWe", 
      "disorders", 
      "counseling", 
      "treatment", 
      "episodes", 
      "levels", 
      "children", 
      "cause", 
      "examination", 
      "girls", 
      "deficiency", 
      "pathway", 
      "heterozygosity", 
      "response", 
      "parents", 
      "investigation", 
      "history", 
      "cases", 
      "test", 
      "pressure", 
      "family", 
      "importance", 
      "compounds", 
      "height", 
      "biosynthetic pathway", 
      "order"
    ], 
    "name": "Congenital adrenal hyperplasia caused by compound heterozygosity of two novel CYP11B1 gene variants", 
    "pagination": "155-161", 
    "productId": [
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1142162076"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1007/s42000-021-00322-1"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "34697763"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1007/s42000-021-00322-1", 
      "https://app.dimensions.ai/details/publication/pub.1142162076"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2022-05-20T07:39", 
    "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
    "sdPublisher": {
      "name": "Springer Nature - SN SciGraph project", 
      "type": "Organization"
    }, 
    "sdSource": "s3://com-springernature-scigraph/baseset/20220519/entities/gbq_results/article/article_899.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "https://doi.org/10.1007/s42000-021-00322-1"
  }
]
 

Download the RDF metadata as:  json-ld nt turtle xml License info

HOW TO GET THIS DATA PROGRAMMATICALLY:

JSON-LD is a popular format for linked data which is fully compatible with JSON.

curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1007/s42000-021-00322-1'

N-Triples is a line-based linked data format ideal for batch operations.

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1007/s42000-021-00322-1'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1007/s42000-021-00322-1'

RDF/XML is a standard XML format for linked data.

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1007/s42000-021-00322-1'


 

This table displays all metadata directly associated to this object as RDF triples.

237 TRIPLES      22 PREDICATES      126 URIs      112 LITERALS      17 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1007/s42000-021-00322-1 schema:about N0093aea55ac54ee08eec80e9f42ca20e
2 N166f4d9cf8da4d848c6ff03c676fbbb4
3 N18adc9d0de794bf6a2052e7a6ab05b1c
4 N24210323025b495e82200c26929aaed1
5 N32df39ed9cd342869434b679e6f527ac
6 N61b24c43bf8b4a27bc4396e3bfa68b2a
7 N9b42f8ba87b54fbba32cd9eecd567e79
8 Nab5ce3a72693423db833e7aede897ed8
9 Naf4a60dfbf7f4a7196e43bbc43afbf2a
10 Ndf22b4fca17a421a8911a31320652542
11 anzsrc-for:06
12 anzsrc-for:0604
13 schema:author Ncc2a51e59c25473eacfb3c71f79a508b
14 schema:citation sg:pub.10.1007/s12020-012-9861-2
15 sg:pub.10.1007/s12020-016-1189-x
16 sg:pub.10.1007/s12020-018-1691-4
17 sg:pub.10.1038/gim.2015.30
18 sg:pub.10.1038/s41586-020-2308-7
19 sg:pub.10.1186/s13048-018-0450-8
20 schema:datePublished 2021-10-26
21 schema:datePublishedReg 2021-10-26
22 schema:description BackgroundCongenital adrenal hyperplasia (CAH) is an autosomal recessive disorder caused by pathogenic variants in seven genes involved in the cortisol and aldosterone biosynthetic pathway. The second most common cause, 11β-hydroxylase deficiency (11βOHD), is attributed to pathogenic variants in the CYP11B1 gene encoding for the enzyme 11β-hydroxylase (11βOH).Case presentationA 13-year-old girl was referred to the pediatric endocrinologist due to a syncopal episode. She is the third child of non-consanguineous parents. She presented with premature adrenarche at the age of 6 years and menarche at the age of 12 years. On physical examination, her height was 154.5 cm and weight 50 kg, while she presented with acne, hirsutism, clitoromegaly, and normal blood pressure. Laboratory investigation revealed increased androgen levels and poor cortisol response to the ACTH stimulation test. From the family history, the mother was diagnosed with CAH at the age of 10 years and was under treatment with methylprednisolone. Previous molecular investigation of the CYP21A2 gene was negative. Due to the increased androstenedione levels in the index patient, the suspicion of 11βOH was raised, and she was investigated for 11-deoxycortisol, 11-deoxycorticosterone, and CYP11B1 gene pathogenic variants. The patient and her mother were found to be compound heterozygous for two novel variants of the CYP11B1 gene.ConclusionWe present a case of CAH due to compound heterozygosity of two novel pathogenic variants of the CYP11B1 gene, emphasizing the importance of molecular investigation in order to confirm clinical diagnosis and allow proper genetic counseling of the family.
23 schema:genre article
24 schema:inLanguage en
25 schema:isAccessibleForFree false
26 schema:isPartOf N6fa7c876776446debdbc1a6180457c6c
27 Nabada3e1430044079b63d2c5d6724807
28 sg:journal.1030758
29 schema:keywords ACTH stimulation test
30 BackgroundCongenital adrenal hyperplasia
31 CAH
32 CYP11B1 gene
33 CYP21A2 gene
34 Case presentationA
35 ConclusionWe
36 acne
37 adrenal hyperplasia
38 adrenarche
39 age
40 aldosterone biosynthetic pathway
41 androgen levels
42 androstenedione levels
43 autosomal recessive disorder
44 biosynthetic pathway
45 blood pressure
46 cases
47 cases of CAH
48 cause
49 children
50 clinical diagnosis
51 clitoromegaly
52 common cause
53 compound heterozygosity
54 compounds
55 congenital adrenal hyperplasia
56 cortisol
57 cortisol response
58 counseling
59 deficiency
60 diagnosis
61 disorders
62 endocrinologists
63 episodes
64 examination
65 family
66 family history
67 gene pathogenic variants
68 gene variants
69 genes
70 genetic counseling
71 girls
72 height
73 heterozygosity
74 hirsutism
75 history
76 hyperplasia
77 importance
78 index patients
79 investigation
80 laboratory investigations
81 levels
82 menarche
83 methylprednisolone
84 molecular investigations
85 mothers
86 non-consanguineous parents
87 normal blood pressure
88 novel pathogenic variants
89 novel variants
90 order
91 parents
92 pathogenic variants
93 pathway
94 patients
95 pediatric endocrinologists
96 physical examination
97 poor cortisol response
98 premature adrenarche
99 pressure
100 previous molecular investigations
101 proper genetic counseling
102 recessive disorder
103 response
104 stimulation test
105 suspicion
106 syncopal episodes
107 test
108 third child
109 treatment
110 variants
111 weight 50
112 years
113 schema:name Congenital adrenal hyperplasia caused by compound heterozygosity of two novel CYP11B1 gene variants
114 schema:pagination 155-161
115 schema:productId N02ccf0671b44441aa138844ec39fe68b
116 N583cf96428d54186b8a7678765473af7
117 N7590513ae21646e085ec217431f7e460
118 schema:sameAs https://app.dimensions.ai/details/publication/pub.1142162076
119 https://doi.org/10.1007/s42000-021-00322-1
120 schema:sdDatePublished 2022-05-20T07:39
121 schema:sdLicense https://scigraph.springernature.com/explorer/license/
122 schema:sdPublisher Nacb34d31997a4cf0b03c98499495d7a7
123 schema:url https://doi.org/10.1007/s42000-021-00322-1
124 sgo:license sg:explorer/license/
125 sgo:sdDataset articles
126 rdf:type schema:ScholarlyArticle
127 N0093aea55ac54ee08eec80e9f42ca20e schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
128 schema:name Aldosterone
129 rdf:type schema:DefinedTerm
130 N02ccf0671b44441aa138844ec39fe68b schema:name dimensions_id
131 schema:value pub.1142162076
132 rdf:type schema:PropertyValue
133 N166f4d9cf8da4d848c6ff03c676fbbb4 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
134 schema:name Adrenal Hyperplasia, Congenital
135 rdf:type schema:DefinedTerm
136 N18adc9d0de794bf6a2052e7a6ab05b1c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
137 schema:name Mutation
138 rdf:type schema:DefinedTerm
139 N24210323025b495e82200c26929aaed1 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
140 schema:name Child
141 rdf:type schema:DefinedTerm
142 N3079a722f6c84dcea2307f03dd750005 rdf:first N5c98ddad442b4510819d57c05cb6f07a
143 rdf:rest rdf:nil
144 N32df39ed9cd342869434b679e6f527ac schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
145 schema:name Female
146 rdf:type schema:DefinedTerm
147 N583cf96428d54186b8a7678765473af7 schema:name doi
148 schema:value 10.1007/s42000-021-00322-1
149 rdf:type schema:PropertyValue
150 N5c98ddad442b4510819d57c05cb6f07a schema:affiliation grid-institutes:None
151 schema:familyName Kanaka-Gantenbein
152 schema:givenName Ch.
153 rdf:type schema:Person
154 N61b24c43bf8b4a27bc4396e3bfa68b2a schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
155 schema:name Steroid 11-beta-Hydroxylase
156 rdf:type schema:DefinedTerm
157 N6fa7c876776446debdbc1a6180457c6c schema:volumeNumber 21
158 rdf:type schema:PublicationVolume
159 N7590513ae21646e085ec217431f7e460 schema:name pubmed_id
160 schema:value 34697763
161 rdf:type schema:PropertyValue
162 N79d2ac1b114f49a4a1816b80da946031 rdf:first sg:person.01110547716.09
163 rdf:rest Nf5cd1217bd6b42c5972a686dd792de91
164 N82332eacb6bf4a3a973c77727277d891 rdf:first sg:person.010535746241.77
165 rdf:rest N79d2ac1b114f49a4a1816b80da946031
166 N9b42f8ba87b54fbba32cd9eecd567e79 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
167 schema:name Hydrocortisone
168 rdf:type schema:DefinedTerm
169 Nab5ce3a72693423db833e7aede897ed8 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
170 schema:name Adolescent
171 rdf:type schema:DefinedTerm
172 Nabada3e1430044079b63d2c5d6724807 schema:issueNumber 1
173 rdf:type schema:PublicationIssue
174 Nacb34d31997a4cf0b03c98499495d7a7 schema:name Springer Nature - SN SciGraph project
175 rdf:type schema:Organization
176 Naf4a60dfbf7f4a7196e43bbc43afbf2a schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
177 schema:name Steroid 21-Hydroxylase
178 rdf:type schema:DefinedTerm
179 Ncc2a51e59c25473eacfb3c71f79a508b rdf:first sg:person.01075461044.74
180 rdf:rest N82332eacb6bf4a3a973c77727277d891
181 Ndf22b4fca17a421a8911a31320652542 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
182 schema:name Humans
183 rdf:type schema:DefinedTerm
184 Nf5cd1217bd6b42c5972a686dd792de91 rdf:first sg:person.01063263662.16
185 rdf:rest N3079a722f6c84dcea2307f03dd750005
186 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
187 schema:name Biological Sciences
188 rdf:type schema:DefinedTerm
189 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
190 schema:name Genetics
191 rdf:type schema:DefinedTerm
192 sg:journal.1030758 schema:issn 1109-3099
193 2520-8721
194 schema:name Hormones
195 schema:publisher Springer Nature
196 rdf:type schema:Periodical
197 sg:person.010535746241.77 schema:affiliation grid-institutes:None
198 schema:familyName Smyrnaki
199 schema:givenName P.
200 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.010535746241.77
201 rdf:type schema:Person
202 sg:person.01063263662.16 schema:affiliation grid-institutes:None
203 schema:familyName Dracopoulou
204 schema:givenName M.
205 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01063263662.16
206 rdf:type schema:Person
207 sg:person.01075461044.74 schema:affiliation grid-institutes:None
208 schema:familyName Fylaktou
209 schema:givenName I.
210 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01075461044.74
211 rdf:type schema:Person
212 sg:person.01110547716.09 schema:affiliation grid-institutes:None
213 schema:familyName Sertedaki
214 schema:givenName A.
215 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01110547716.09
216 rdf:type schema:Person
217 sg:pub.10.1007/s12020-012-9861-2 schema:sameAs https://app.dimensions.ai/details/publication/pub.1037040501
218 https://doi.org/10.1007/s12020-012-9861-2
219 rdf:type schema:CreativeWork
220 sg:pub.10.1007/s12020-016-1189-x schema:sameAs https://app.dimensions.ai/details/publication/pub.1021102789
221 https://doi.org/10.1007/s12020-016-1189-x
222 rdf:type schema:CreativeWork
223 sg:pub.10.1007/s12020-018-1691-4 schema:sameAs https://app.dimensions.ai/details/publication/pub.1107123978
224 https://doi.org/10.1007/s12020-018-1691-4
225 rdf:type schema:CreativeWork
226 sg:pub.10.1038/gim.2015.30 schema:sameAs https://app.dimensions.ai/details/publication/pub.1022229472
227 https://doi.org/10.1038/gim.2015.30
228 rdf:type schema:CreativeWork
229 sg:pub.10.1038/s41586-020-2308-7 schema:sameAs https://app.dimensions.ai/details/publication/pub.1127885244
230 https://doi.org/10.1038/s41586-020-2308-7
231 rdf:type schema:CreativeWork
232 sg:pub.10.1186/s13048-018-0450-8 schema:sameAs https://app.dimensions.ai/details/publication/pub.1107066790
233 https://doi.org/10.1186/s13048-018-0450-8
234 rdf:type schema:CreativeWork
235 grid-institutes:None schema:alternateName Division of Endocrinology, Diabetes and Metabolism, Center for Rare Paediatric Endocrine Diseases, First Department of Paediatrics, Medical School, National and Kapodistrian University of Athens, Agia Sophia” Children’s Hospital, Athens, Greece
236 schema:name Division of Endocrinology, Diabetes and Metabolism, Center for Rare Paediatric Endocrine Diseases, First Department of Paediatrics, Medical School, National and Kapodistrian University of Athens, Agia Sophia” Children’s Hospital, Athens, Greece
237 rdf:type schema:Organization
 




Preview window. Press ESC to close (or click here)


...