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Article

Left ventricular noncompaction in Sotos syndrome.

American journal of medical genetics. Part A - 1 May 2011

Martinez Hugo R, Belmont John W, Craigen William J, Taylor Michael D, Jefferies John L

Abstract excerpt

Sotos syndrome is an autosomal dominant condition characterized by pre- and postnatal overgrowth (tall stature and macrocephaly), a typical facial appearance, advanced bone age, and developmental delay. The syndrome is caused by mutations or deletions of the nuclear receptor binding SET domain protein 1 (NSD1) gene, which encodes a histone methyltransferase implicated in the regulation of chromatin. Left...

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Identifiers

PMID: 21484993
DOI: 10.1002/ajmg.a.33838

Genes

NSD1
SET

Provenance

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