期刊
NATURE GENETICS
卷 39, 期 8, 页码 963-965出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ng2083
关键词
-
资金
- Medical Research Council [G0400188] Funding Source: researchfish
- MRC [G0400188] Funding Source: UKRI
- Medical Research Council [G0400188] Funding Source: Medline
17q11 microdeletions that encompass NF1 cause 5%-10% of cases of neurofibromatosis type 1, and individuals with microdeletions are typically taller than individuals with intragenic NF1 mutations, suggesting that deletion of a neighboring gene might promote human growth. We identified mutations in RNF135, which is within the NF1 microdeletion region, in six families characterized by overgrowth, learning disability, dysmorphic features and variable additional features. These data identify RNF135 as causative of a new overgrowth syndrome and demonstrate that RNF135 haploinsufficiency contributes to the phenotype of NF1 microdeletion cases.
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