Novel compound heterozygous ITGB4 mutations underlie lethal junctional epidermolysis bullosa with pyloric atresia and aplasia cutis congenita.
作者信息
Hsu Chung-Hao, Tu Wei-Ting, Chen Peng-Chieh, Yu-Yun Lee Julia, Hsu Chao-Kai, Chiu Tsu-Man
机构信息
Department of Dermatology, Changhua Christian Hospital, Changhua, Taiwan.
Department of Dermatology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan.
出版信息
J Dermatol. 2022 May;49(5):e154-e156. doi: 10.1111/1346-8138.16290. Epub 2022 Jan 11.
PMID:35014068
Abstract
摘要
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Novel compound heterozygous ITGB4 mutations underlie lethal junctional epidermolysis bullosa with pyloric atresia and aplasia cutis congenita.新型复合杂合ITGB4突变是致死性交界性大疱性表皮松解症伴先天性皮肤发育不全和幽门闭锁的病因。
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