The additional genetic diagnosis of homozygous sickle cell disease in a patient with Waardenburg-Shah syndrome: a case report View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2019-12

AUTHORS

Angela E. Rankine-Mullings, Graham Serjeant, Zachary Ramsay, Neil A. Hanchard, Monika Asnani

ABSTRACT

BACKGROUND: It is important that multiple genetic diagnoses are not missed. This case report describes the clinical features and management of a patient with co-inheritance of Waardenburg syndrome type 4 or Waardenburg-Shah syndrome, an extremely rare disease, and homozygous sickle cell disease not uncommon in the Caribbean. This case is unusual as it may be the first documented case of the co-inheritance of both these diseases. Given the commonality of sickle cell and related hemoglobinopathies, such combined disorders are likely to be under-reported. Importantly, reporting this case will add to the medical literature as it will raise awareness of the phenotypic manifestations of this disorder. CASE PRESENTATION: A 54-year-old Afro-Caribbean woman had a delayed diagnosis of homozygous sickle cell disease at 7 years of age by hemoglobin electrophoresis. The complications of sickle cell disease she experienced included bone pain, a chronic right leg ulcer, avascular necrosis of her left hip, and symptomatic cholelithiasis. This diagnosis was preceded by an earlier diagnosis of Waardenburg syndrome. The basis for the diagnosis of Waardenburg-Shah syndrome was the presence of pigmentary disturbances of her eyes (hypoplastic blue irides), congenital sensorineural hearing loss, and Hirschsprung's disease. She was mute and complained of chronic constipation which required disimpaction on several occasions. She attended a school for the deaf and communicated via writing. A Duhamel procedure bypassing her rectum was performed at age 9. She died following an admission for acute chest syndrome complications. CONCLUSION: Sickle cell disease can be diagnosed by newborn screening but, as in this case, may have a delayed presentation. The delay in diagnosis of homozygous sickle cell disease illustrates that other genetic disorders should be considered in patients who already have a diagnosis of one Mendelian disorder but show atypical features. More... »

PAGES

10

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1186/s13256-018-1953-z

DOI

http://dx.doi.org/10.1186/s13256-018-1953-z

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1111335607

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/30636638


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/2008/1102", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Cardiorespiratory Medicine and Haematology", 
        "type": "DefinedTerm"
      }, 
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/11", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Medical and Health Sciences", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "University of the West Indies", 
          "id": "https://www.grid.ac/institutes/grid.12916.3d", 
          "name": [
            "Sickle Cell Unit, Caribbean Institute for Health Research, The University of the West Indies, Kingston 7, Jamaica"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Rankine-Mullings", 
        "givenName": "Angela E.", 
        "id": "sg:person.01137060721.13", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01137060721.13"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Sickle Cell Trust (Jamaica), 14 Milverton Crescent, Kingston 6, Jamaica"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Serjeant", 
        "givenName": "Graham", 
        "id": "sg:person.0645550463.10", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0645550463.10"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of the West Indies", 
          "id": "https://www.grid.ac/institutes/grid.12916.3d", 
          "name": [
            "Sickle Cell Unit, Caribbean Institute for Health Research, The University of the West Indies, Kingston 7, Jamaica"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Ramsay", 
        "givenName": "Zachary", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Baylor College of Medicine", 
          "id": "https://www.grid.ac/institutes/grid.39382.33", 
          "name": [
            "Department of Molecular and Human Genetics, Baylor College of Medicine, 77030, Houston, TX, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Hanchard", 
        "givenName": "Neil A.", 
        "id": "sg:person.0632070502.53", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0632070502.53"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of the West Indies", 
          "id": "https://www.grid.ac/institutes/grid.12916.3d", 
          "name": [
            "Sickle Cell Unit, Caribbean Institute for Health Research, The University of the West Indies, Kingston 7, Jamaica"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Asnani", 
        "givenName": "Monika", 
        "id": "sg:person.0712065166.46", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0712065166.46"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "https://doi.org/10.11604/pamj.2013.14.60.1543", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1002442541"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1155/2011/248527", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1016044270"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1056/nejmoa1516767", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1017038770"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1371/journal.pone.0066631", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1017764600"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/s13256-016-1035-z", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1031084168", 
          "https://doi.org/10.1186/s13256-016-1035-z"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/s13256-016-1035-z", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1031084168", 
          "https://doi.org/10.1186/s13256-016-1035-z"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1177/000348940311200913", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1033877327"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1177/000348940311200913", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1033877327"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0140-6736(00)04132-5", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1036293146"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.3109/00016487309121507", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1037163145"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajh.23232", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1042009821"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1086/302895", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1058610448"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1056/nejmra1510865", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1084972366"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.4103/fjs.fjs_30_17", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1100618869"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1371/journal.pone.0192710", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1101305298"
        ], 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2019-12", 
    "datePublishedReg": "2019-12-01", 
    "description": "BACKGROUND: It is important that multiple genetic diagnoses are not missed. This case report describes the clinical features and management of a patient with co-inheritance of Waardenburg syndrome type 4 or Waardenburg-Shah syndrome, an extremely rare disease, and homozygous sickle cell disease not uncommon in the Caribbean. This case is unusual as it may be the first documented case of the co-inheritance of both these diseases. Given the commonality of sickle cell and related hemoglobinopathies, such combined disorders are likely to be under-reported. Importantly, reporting this case will add to the medical literature as it will raise awareness of the phenotypic manifestations of this disorder.\nCASE PRESENTATION: A 54-year-old Afro-Caribbean woman had a delayed diagnosis of homozygous sickle cell disease at 7\u2009years of age by hemoglobin electrophoresis. The complications of sickle cell disease she experienced included bone pain, a chronic right leg ulcer, avascular necrosis of her left hip, and symptomatic cholelithiasis. This diagnosis was preceded by an earlier diagnosis of Waardenburg syndrome. The basis for the diagnosis of Waardenburg-Shah syndrome was the presence of pigmentary disturbances of her eyes (hypoplastic blue irides), congenital sensorineural hearing loss, and Hirschsprung's disease. She was mute and complained of chronic constipation which required disimpaction on several occasions. She attended a school for the deaf and communicated via writing. A Duhamel procedure bypassing her rectum was performed at age 9. She died following an admission for acute chest syndrome complications.\nCONCLUSION: Sickle cell disease can be diagnosed by newborn screening but, as in this case, may have a delayed presentation. The delay in diagnosis of homozygous sickle cell disease illustrates that other genetic disorders should be considered in patients who already have a diagnosis of one Mendelian disorder but show atypical features.", 
    "genre": "research_article", 
    "id": "sg:pub.10.1186/s13256-018-1953-z", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": true, 
    "isPartOf": [
      {
        "id": "sg:journal.1038062", 
        "issn": [
          "1752-1947"
        ], 
        "name": "Journal of Medical Case Reports", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "1", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "13"
      }
    ], 
    "name": "The additional genetic diagnosis of homozygous sickle cell disease in a patient with Waardenburg-Shah syndrome: a case report", 
    "pagination": "10", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "58e3986e65baaf2ad77d19241f511352f54698d030270293c727679a7fb6560d"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "30636638"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "101293382"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1186/s13256-018-1953-z"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1111335607"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1186/s13256-018-1953-z", 
      "https://app.dimensions.ai/details/publication/pub.1111335607"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-11T08:41", 
    "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
    "sdPublisher": {
      "name": "Springer Nature - SN SciGraph project", 
      "type": "Organization"
    }, 
    "sdSource": "s3://com-uberresearch-data-dimensions-target-20181106-alternative/cleanup/v134/2549eaecd7973599484d7c17b260dba0a4ecb94b/merge/v9/a6c9fde33151104705d4d7ff012ea9563521a3ce/jats-lookup/v90/0000000320_0000000320/records_101366_00000000.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "https://link.springer.com/10.1186%2Fs13256-018-1953-z"
  }
]
 

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.10.1186/s13256-018-1953-z'

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

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1186/s13256-018-1953-z'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1186/s13256-018-1953-z'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1186/s13256-018-1953-z'


 

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

140 TRIPLES      21 PREDICATES      42 URIs      21 LITERALS      9 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1186/s13256-018-1953-z schema:about anzsrc-for:11
2 anzsrc-for:1102
3 schema:author Nfa954c2055314174885435de9ffce138
4 schema:citation sg:pub.10.1186/s13256-016-1035-z
5 https://doi.org/10.1002/ajh.23232
6 https://doi.org/10.1016/s0140-6736(00)04132-5
7 https://doi.org/10.1056/nejmoa1516767
8 https://doi.org/10.1056/nejmra1510865
9 https://doi.org/10.1086/302895
10 https://doi.org/10.1155/2011/248527
11 https://doi.org/10.11604/pamj.2013.14.60.1543
12 https://doi.org/10.1177/000348940311200913
13 https://doi.org/10.1371/journal.pone.0066631
14 https://doi.org/10.1371/journal.pone.0192710
15 https://doi.org/10.3109/00016487309121507
16 https://doi.org/10.4103/fjs.fjs_30_17
17 schema:datePublished 2019-12
18 schema:datePublishedReg 2019-12-01
19 schema:description BACKGROUND: It is important that multiple genetic diagnoses are not missed. This case report describes the clinical features and management of a patient with co-inheritance of Waardenburg syndrome type 4 or Waardenburg-Shah syndrome, an extremely rare disease, and homozygous sickle cell disease not uncommon in the Caribbean. This case is unusual as it may be the first documented case of the co-inheritance of both these diseases. Given the commonality of sickle cell and related hemoglobinopathies, such combined disorders are likely to be under-reported. Importantly, reporting this case will add to the medical literature as it will raise awareness of the phenotypic manifestations of this disorder. CASE PRESENTATION: A 54-year-old Afro-Caribbean woman had a delayed diagnosis of homozygous sickle cell disease at 7 years of age by hemoglobin electrophoresis. The complications of sickle cell disease she experienced included bone pain, a chronic right leg ulcer, avascular necrosis of her left hip, and symptomatic cholelithiasis. This diagnosis was preceded by an earlier diagnosis of Waardenburg syndrome. The basis for the diagnosis of Waardenburg-Shah syndrome was the presence of pigmentary disturbances of her eyes (hypoplastic blue irides), congenital sensorineural hearing loss, and Hirschsprung's disease. She was mute and complained of chronic constipation which required disimpaction on several occasions. She attended a school for the deaf and communicated via writing. A Duhamel procedure bypassing her rectum was performed at age 9. She died following an admission for acute chest syndrome complications. CONCLUSION: Sickle cell disease can be diagnosed by newborn screening but, as in this case, may have a delayed presentation. The delay in diagnosis of homozygous sickle cell disease illustrates that other genetic disorders should be considered in patients who already have a diagnosis of one Mendelian disorder but show atypical features.
20 schema:genre research_article
21 schema:inLanguage en
22 schema:isAccessibleForFree true
23 schema:isPartOf N4eeedc5defa3470aa16d28a54c4a954d
24 Nd7d3d1d5bfc94bfdb1eb8a5895eb46a8
25 sg:journal.1038062
26 schema:name The additional genetic diagnosis of homozygous sickle cell disease in a patient with Waardenburg-Shah syndrome: a case report
27 schema:pagination 10
28 schema:productId N219b2fb6743a47069b7be0edd4fdfffa
29 N51e5580fed214cd7b2441d6bcba3acb5
30 N82243579dfef48b6952cc520a70fafc0
31 Nda93629eed1e4dd4a2875e9ff0dd09fe
32 Nfd333e95f49b45d896909d20828c1736
33 schema:sameAs https://app.dimensions.ai/details/publication/pub.1111335607
34 https://doi.org/10.1186/s13256-018-1953-z
35 schema:sdDatePublished 2019-04-11T08:41
36 schema:sdLicense https://scigraph.springernature.com/explorer/license/
37 schema:sdPublisher N91d97b3687fd4212b0d6e9d292592098
38 schema:url https://link.springer.com/10.1186%2Fs13256-018-1953-z
39 sgo:license sg:explorer/license/
40 sgo:sdDataset articles
41 rdf:type schema:ScholarlyArticle
42 N1c825fc36afc4f5893de3ca29f6afcd8 schema:name Sickle Cell Trust (Jamaica), 14 Milverton Crescent, Kingston 6, Jamaica
43 rdf:type schema:Organization
44 N219b2fb6743a47069b7be0edd4fdfffa schema:name pubmed_id
45 schema:value 30636638
46 rdf:type schema:PropertyValue
47 N3874cbe5fe4d442b91186f2cfcee5a7e schema:affiliation https://www.grid.ac/institutes/grid.12916.3d
48 schema:familyName Ramsay
49 schema:givenName Zachary
50 rdf:type schema:Person
51 N4cc645df29b04e7f84b67a8f76927056 rdf:first N3874cbe5fe4d442b91186f2cfcee5a7e
52 rdf:rest N89de5919fde54d2d9a9da693aa12bd04
53 N4eeedc5defa3470aa16d28a54c4a954d schema:volumeNumber 13
54 rdf:type schema:PublicationVolume
55 N51e5580fed214cd7b2441d6bcba3acb5 schema:name nlm_unique_id
56 schema:value 101293382
57 rdf:type schema:PropertyValue
58 N82243579dfef48b6952cc520a70fafc0 schema:name readcube_id
59 schema:value 58e3986e65baaf2ad77d19241f511352f54698d030270293c727679a7fb6560d
60 rdf:type schema:PropertyValue
61 N89de5919fde54d2d9a9da693aa12bd04 rdf:first sg:person.0632070502.53
62 rdf:rest Ne3d7a3c0021d43248b3cbc04a11f6f09
63 N91d97b3687fd4212b0d6e9d292592098 schema:name Springer Nature - SN SciGraph project
64 rdf:type schema:Organization
65 N94eade80205b483fa810884f6969ff09 rdf:first sg:person.0645550463.10
66 rdf:rest N4cc645df29b04e7f84b67a8f76927056
67 Nd7d3d1d5bfc94bfdb1eb8a5895eb46a8 schema:issueNumber 1
68 rdf:type schema:PublicationIssue
69 Nda93629eed1e4dd4a2875e9ff0dd09fe schema:name doi
70 schema:value 10.1186/s13256-018-1953-z
71 rdf:type schema:PropertyValue
72 Ne3d7a3c0021d43248b3cbc04a11f6f09 rdf:first sg:person.0712065166.46
73 rdf:rest rdf:nil
74 Nfa954c2055314174885435de9ffce138 rdf:first sg:person.01137060721.13
75 rdf:rest N94eade80205b483fa810884f6969ff09
76 Nfd333e95f49b45d896909d20828c1736 schema:name dimensions_id
77 schema:value pub.1111335607
78 rdf:type schema:PropertyValue
79 anzsrc-for:11 schema:inDefinedTermSet anzsrc-for:
80 schema:name Medical and Health Sciences
81 rdf:type schema:DefinedTerm
82 anzsrc-for:1102 schema:inDefinedTermSet anzsrc-for:
83 schema:name Cardiorespiratory Medicine and Haematology
84 rdf:type schema:DefinedTerm
85 sg:journal.1038062 schema:issn 1752-1947
86 schema:name Journal of Medical Case Reports
87 rdf:type schema:Periodical
88 sg:person.01137060721.13 schema:affiliation https://www.grid.ac/institutes/grid.12916.3d
89 schema:familyName Rankine-Mullings
90 schema:givenName Angela E.
91 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01137060721.13
92 rdf:type schema:Person
93 sg:person.0632070502.53 schema:affiliation https://www.grid.ac/institutes/grid.39382.33
94 schema:familyName Hanchard
95 schema:givenName Neil A.
96 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0632070502.53
97 rdf:type schema:Person
98 sg:person.0645550463.10 schema:affiliation N1c825fc36afc4f5893de3ca29f6afcd8
99 schema:familyName Serjeant
100 schema:givenName Graham
101 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0645550463.10
102 rdf:type schema:Person
103 sg:person.0712065166.46 schema:affiliation https://www.grid.ac/institutes/grid.12916.3d
104 schema:familyName Asnani
105 schema:givenName Monika
106 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0712065166.46
107 rdf:type schema:Person
108 sg:pub.10.1186/s13256-016-1035-z schema:sameAs https://app.dimensions.ai/details/publication/pub.1031084168
109 https://doi.org/10.1186/s13256-016-1035-z
110 rdf:type schema:CreativeWork
111 https://doi.org/10.1002/ajh.23232 schema:sameAs https://app.dimensions.ai/details/publication/pub.1042009821
112 rdf:type schema:CreativeWork
113 https://doi.org/10.1016/s0140-6736(00)04132-5 schema:sameAs https://app.dimensions.ai/details/publication/pub.1036293146
114 rdf:type schema:CreativeWork
115 https://doi.org/10.1056/nejmoa1516767 schema:sameAs https://app.dimensions.ai/details/publication/pub.1017038770
116 rdf:type schema:CreativeWork
117 https://doi.org/10.1056/nejmra1510865 schema:sameAs https://app.dimensions.ai/details/publication/pub.1084972366
118 rdf:type schema:CreativeWork
119 https://doi.org/10.1086/302895 schema:sameAs https://app.dimensions.ai/details/publication/pub.1058610448
120 rdf:type schema:CreativeWork
121 https://doi.org/10.1155/2011/248527 schema:sameAs https://app.dimensions.ai/details/publication/pub.1016044270
122 rdf:type schema:CreativeWork
123 https://doi.org/10.11604/pamj.2013.14.60.1543 schema:sameAs https://app.dimensions.ai/details/publication/pub.1002442541
124 rdf:type schema:CreativeWork
125 https://doi.org/10.1177/000348940311200913 schema:sameAs https://app.dimensions.ai/details/publication/pub.1033877327
126 rdf:type schema:CreativeWork
127 https://doi.org/10.1371/journal.pone.0066631 schema:sameAs https://app.dimensions.ai/details/publication/pub.1017764600
128 rdf:type schema:CreativeWork
129 https://doi.org/10.1371/journal.pone.0192710 schema:sameAs https://app.dimensions.ai/details/publication/pub.1101305298
130 rdf:type schema:CreativeWork
131 https://doi.org/10.3109/00016487309121507 schema:sameAs https://app.dimensions.ai/details/publication/pub.1037163145
132 rdf:type schema:CreativeWork
133 https://doi.org/10.4103/fjs.fjs_30_17 schema:sameAs https://app.dimensions.ai/details/publication/pub.1100618869
134 rdf:type schema:CreativeWork
135 https://www.grid.ac/institutes/grid.12916.3d schema:alternateName University of the West Indies
136 schema:name Sickle Cell Unit, Caribbean Institute for Health Research, The University of the West Indies, Kingston 7, Jamaica
137 rdf:type schema:Organization
138 https://www.grid.ac/institutes/grid.39382.33 schema:alternateName Baylor College of Medicine
139 schema:name Department of Molecular and Human Genetics, Baylor College of Medicine, 77030, Houston, TX, USA
140 rdf:type schema:Organization
 




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


...