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Article

Sotos syndrome.

Orphanet journal of rare diseases - 7 Sept 2007

Baujat Geneviève, Cormier-Daire Valérie

Abstract excerpt

Sotos syndrome is an overgrowth condition characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty, and associated with variable minor features. The exact prevalence remains unknown but hundreds of cases have been reported. The diagnosis is usually suspected after birth because of excessive height and...

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Source

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Identifiers

PMID: 17825104
DOI: 10.1186/1750-1172-2-36
PMCID: PMC2018686

Genes

NSD1

Provenance

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Related research

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Research trail→

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The Behavioral Phenotype and Importance of Multidisciplinary Care in Patients With Sotos Syndrome: A Single-Center Experience.Semantic proximity Read ↗

A novel nonsense variant in NSD1 gene in a female child with Sotos syndrome: A case report and literature review.Semantic proximity Read ↗

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Spectrum of NSD1 mutations in Sotos and Weaver syndromes.Semantic proximity Read ↗

Identification of Novel NSD1 variations in four Pediatric cases with sotos Syndrome.Semantic proximity Read ↗

NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes.Semantic proximity Read ↗

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