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Eur J Hum Genet. 2007 Mar;15(3):264-71. Epub 2006 Sep 13.

Sotos syndrome.

Author information

1
Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, UK.

Abstract

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.

PMID:
16969376
DOI:
10.1038/sj.ejhg.5201686
[Indexed for MEDLINE]
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