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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Autores principales: Hayashi, Shion, Yokoi, Takayuki, Hatano, Chihiro, Enomoto, Yumi, Tsurusaki, Yoshinori, Naruto, Takuya, Kobayashi, Masahisa, Ida, Hiroyuki, Kurosawa, Kenji
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5993725/
https://www.ncbi.nlm.nih.gov/pubmed/29899996
http://dx.doi.org/10.1038/s41439-018-0011-0
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author Hayashi, Shion
Yokoi, Takayuki
Hatano, Chihiro
Enomoto, Yumi
Tsurusaki, Yoshinori
Naruto, Takuya
Kobayashi, Masahisa
Ida, Hiroyuki
Kurosawa, Kenji
author_facet Hayashi, Shion
Yokoi, Takayuki
Hatano, Chihiro
Enomoto, Yumi
Tsurusaki, Yoshinori
Naruto, Takuya
Kobayashi, Masahisa
Ida, Hiroyuki
Kurosawa, Kenji
author_sort Hayashi, Shion
collection PubMed
description 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.
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spelling pubmed-59937252018-06-13 Biallelic mutations of EGFR in a compound heterozygous state cause ectodermal dysplasia with severe skin defects and gastrointestinal dysfunction Hayashi, Shion Yokoi, Takayuki Hatano, Chihiro Enomoto, Yumi Tsurusaki, Yoshinori Naruto, Takuya Kobayashi, Masahisa Ida, Hiroyuki Kurosawa, Kenji Hum Genome Var Data Report 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. Nature Publishing Group UK 2018-06-08 /pmc/articles/PMC5993725/ /pubmed/29899996 http://dx.doi.org/10.1038/s41439-018-0011-0 Text en © The Author(s) 2018 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
spellingShingle Data Report
Hayashi, Shion
Yokoi, Takayuki
Hatano, Chihiro
Enomoto, Yumi
Tsurusaki, Yoshinori
Naruto, Takuya
Kobayashi, Masahisa
Ida, Hiroyuki
Kurosawa, Kenji
Biallelic mutations of EGFR in a compound heterozygous state cause ectodermal dysplasia with severe skin defects and gastrointestinal dysfunction
title Biallelic mutations of EGFR in a compound heterozygous state cause ectodermal dysplasia with severe skin defects and gastrointestinal dysfunction
title_full Biallelic mutations of EGFR in a compound heterozygous state cause ectodermal dysplasia with severe skin defects and gastrointestinal dysfunction
title_fullStr Biallelic mutations of EGFR in a compound heterozygous state cause ectodermal dysplasia with severe skin defects and gastrointestinal dysfunction
title_full_unstemmed Biallelic mutations of EGFR in a compound heterozygous state cause ectodermal dysplasia with severe skin defects and gastrointestinal dysfunction
title_short Biallelic mutations of EGFR in a compound heterozygous state cause ectodermal dysplasia with severe skin defects and gastrointestinal dysfunction
title_sort biallelic mutations of egfr in a compound heterozygous state cause ectodermal dysplasia with severe skin defects and gastrointestinal dysfunction
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5993725/
https://www.ncbi.nlm.nih.gov/pubmed/29899996
http://dx.doi.org/10.1038/s41439-018-0011-0
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