Sotos syndrome - PubMed (original) (raw)
Sotos syndrome
Katrina Tatton-Brown et al. Eur J Hum Genet. 2007 Mar.
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.
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