期刊
CYTOGENETIC AND GENOME RESEARCH
卷 154, 期 3, 页码 119-121出版社
KARGER
DOI: 10.1159/000487580
关键词
Focal dermal hypoplasia; Goltz-Gorlin syndrome; PORCN; X-linked dominant disease
Focal dermal hypoplasia (FDH), also known as Goltz-Gorlin syndrome, is a rare, multisystemic, X-linked dominant geno-dermatosis characterized by defective development of mesodermal and ectodermal tissues. Major clinical features of the disorder are skin manifestations, skeletal defects, and developmental eye abnormalities. FDH is caused by heterozygous mutations in the PORCN gene located at Xp11.23, and 90% of individuals with FDH are females. Here, we report a female patient with cutaneous changes, multiple eye anomalies, short stature, and ectrodactyly of the right foot. These clinical findings were compatible with the diagnosis of FDH, and a novel mutation, NM_022825.3:c.488deIG was found in the PORCN gene causing a premature stop codon. (C) 2018 S. Karger AG, Basel
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据