期刊
NATURE GENETICS
卷 37, 期 10, 页码 1035-1037出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ng1636
关键词
-
资金
- NEI NIH HHS [R01 EY015298] Funding Source: Medline
We identified homozygous truncating mutations in HOXA1 in three genetically isolated human populations. The resulting phenotype includes horizontal gaze abnormalities, deafness, facial weakness, hypoventilation, vascular malformations of the internal carotid arteries and cardiac outflow tract, mental retardation and autism spectrum disorder. This is the first report to our knowledge of viable homozygous truncating mutations in any human HOX gene and of a mendelian disorder resulting from mutations in a human HOX gene critical for development of the central nervous system.
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