Biallelic mutations of EGFR in a compound heterozygous state cause ectodermal dysplasia with severe skin defects and gastrointestinal dysfunction View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2018-12

AUTHORS

Shion Hayashi, Takayuki Yokoi, Chihiro Hatano, Yumi Enomoto, Yoshinori Tsurusaki, Takuya Naruto, Masahisa Kobayashi, Hiroyuki Ida, Kenji Kurosawa

ABSTRACT

Epidermal growth factor receptor (EGFR), a receptor that recognizes epidermal growth factor, is a very important regulator of cell proliferation and differentiation. To date, three cases of severe ectodermal dysplasia were reported to be caused by an inherited germline homozygous loss-of-function missense mutation of EGFR. This is the first report of a patient with biallelic compound heterozygous mutations in EGFR. More... »

PAGES

11

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/s41439-018-0011-0

DOI

http://dx.doi.org/10.1038/s41439-018-0011-0

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1104467811

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/29899996


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155 https://www.grid.ac/institutes/grid.411898.d schema:alternateName Jikei University
156 schema:name Department of Pediatrics, The Jikei University School of Medicine, Tokyo, Japan
157 rdf:type schema:Organization
158 https://www.grid.ac/institutes/grid.414947.b schema:alternateName Kanagawa Children's Medical Center
159 schema:name Clinical Research Institute, Kanagawa Children’s Medical Center, Yokohama, Japan
160 Department of Pediatrics, The Jikei University School of Medicine, Tokyo, Japan
161 Division of Medical Genetics, Kanagawa Children’s Medical Center, Yokohama, Japan
162 rdf:type schema:Organization
 




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