期刊
NATURE GENETICS
卷 39, 期 7, 页码 836-838出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ng2057
关键词
-
资金
- NICHD NIH HHS [HD024064, HD051805] Funding Source: Medline
Focal dermal hypoplasia is an X- linked dominant disorder characterized by patchy hypoplastic skin and digital, ocular and dental malformations. We used array comparative genomic hybridization to identify a 219- kb deletion in Xp11.23 in two affected females. We sequenced genes in this region and found heterozygous and mosaic mutations in PORCN in other affected females and males, respectively. PORCN encodes the human homolog of Drosophila melanogaster porcupine, an endoplasmic reticulum protein involved in secretion of Wnt proteins.
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