A novel missense mutation in exon 3 of the TRPS1 gene in a patient with a mild phenotype of tricho-rhino-phalangeal syndrome type 1.
作者信息
Torai Ryotaro, Makino Teruhiko, Mizawa Megumi, Shimomura Yutaka, Shimizu Tadamichi
机构信息
Department of Dermatology, Graduate School of Medicine and Pharmaceutical Sciences, University of Toyama, Toyama, Japan.
Department of Dermatology, Yamaguchi University Graduate School of Medicine, Ube, Japan.
出版信息
Eur J Dermatol. 2018 Apr 1;28(2):271-272. doi: 10.1684/ejd.2018.3233.
PMID:29400302
Abstract
摘要
Zotero 插件