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Article

First identified Korean family with Sotos syndrome caused by a novel intragenic mutation in NSD1.

Annals of clinical and laboratory science - 1 Jan 2014

Park So Hyun, Lee Ji Eun, Sohn Young Bae, Ko Jung Min

Abstract excerpt

Sotos syndrome (SS) is a congenital overgrowth syndrome. NSD1 mutations are identifiable in most SS patients. There have been a few reports of familial inheritance of SS worldwide, but no familial cases have been reported in Korea. A 6-month-old girl had tall stature and macrocephaly with mild ventricular enlargement, and showed mild delay in motor and language development. Her mother also had tall stature and a...

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Identifiers

PMID: 24795065

Genes

NSD1

Variants

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