Sotos syndrome

被引：0

作者：

Katrina Tatton-Brown

Nazneen Rahman

机构：

[1] Section of Cancer Genetics,

[2] Institute of Cancer Research,undefined

来源：

European Journal of Human Genetics | 2007年 / 15卷

关键词：

Sotos; NSD1; overgrowth syndrome; histone methyltransferase;

D O I：

暂无

中图分类号：

学科分类号：

摘要：

Sotos syndrome is an autosomal dominant condition characterised by a distinctive facial appearance, learning disability and overgrowth resulting in tall stature and macrocephaly. In 2002, Sotos syndrome was shown to be caused by mutations and deletions of NSD1, which encodes a histone methyltransferase implicated in chromatin regulation. More recently, the NSD1 mutational spectrum has been defined, the phenotype of Sotos syndrome clarified and diagnostic and management guidelines developed.

引用

页码：264 / 271

页数：7

共 50 条

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