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Congenital Anonychia and Uncombable Hair Syndrome: Coinheritance of Homozygous Mutations in RSPO4 and PADI3.

作者信息

Hsu Chao-Kai, Romano Maria Teresa, Nanda Arti, Rashidghamat Ellie, Lee John Y W, Huang Hsin-Yu, Songsantiphap Chankiat, Lee Julia Yu-Yun, Al-Ajmi Hejab, Betz Regina C, Simpson Michael A, McGrath John A, Tziotzios Christos

机构信息

St John's Institute of Dermatology, King's College London (Guy's Campus), London, UK; Department of Dermatology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan; Institute of Clinical Medicine, College of Medicine, National Cheng Kung University, Tainan, Taiwan.

Institute of Human Genetics, University of Bonn, Bonn, Germany.

出版信息

J Invest Dermatol. 2017 May;137(5):1176-1179. doi: 10.1016/j.jid.2016.12.015. Epub 2017 Jan 10.

DOI:10.1016/j.jid.2016.12.015
PMID:28087452
Abstract
摘要

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