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

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 mi...

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Bibliographische Detailangaben
Veröffentlicht in:Hum Genome Var
Hauptverfasser: Hayashi, Shion, Yokoi, Takayuki, Hatano, Chihiro, Enomoto, Yumi, Tsurusaki, Yoshinori, Naruto, Takuya, Kobayashi, Masahisa, Ida, Hiroyuki, Kurosawa, Kenji
Format: Artigo
Sprache:Inglês
Veröffentlicht: Nature Publishing Group UK 2018
Schlagworte:
Data Report
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5993725/
https://ncbi.nlm.nih.gov/pubmed/29899996
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-018-0011-0
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