期刊
EUROPEAN JOURNAL OF HUMAN GENETICS
卷 17, 期 3, 页码 395-400出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ejhg.2008.200
关键词
CUL7; paternal isodisomy of chromosome 6; genetic heterogeneity of 3M syndrome
The 3M syndrome is a rare autosomal recessive disorder recently ascribed to mutations in the CUL7 gene and characterized by severe pre- and postnatal growth retardation. Studying a series of 33 novel cases of 3M syndrome, we have identified deleterious CUL7 mutations in 23/33 patients, including 19 novel mutations and one paternal isodisomy of chromosome 6 encompassing a CUL7 mutation. Lack of mutations in 10/33 cases and exclusion of the CUL7 locus on chromosome 6p21.1 in six consanguineous families strongly support the genetic heterogeneity of the 3M syndrome.
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