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Article

Spectrum of NSD1 mutations in Sotos and Weaver syndromes.

Journal of medical genetics - 1 Jun 2003

Rio M, Clech L, Amiel J, Faivre L, Lyonnet S, Le Merrer M, Odent S, Lacombe D, Edery P, Brauner R, Raoul O, Gosset P, Prieur M, Vekemans M, Munnich A, Colleaux L, Cormier-Daire V

Abstract excerpt

Sotos syndrome is an overgrowth syndrome characterised by pre- and postnatal overgrowth, macrocephaly, advanced bone age, and typical facial features. Weaver syndrome is a closely related condition characterised by a distinctive craniofacial appearance, advanced carpal maturation, widened distal...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 12807965
DOI: 10.1136/jmg.40.6.436
PMCID: PMC1735492

Genes

NSD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-12807965-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Spectrum of NSD1 mutations in Sotos and Weaver syndromes.PMID 12807965Read ↗

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 ↗

Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth.Semantic proximity Read ↗

Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes.Semantic proximity Read ↗

A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion.Semantic proximity Read ↗

Sotos syndrome.Semantic proximity Read ↗

Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations.Semantic proximity Read ↗

NSD1 mutations in Sotos syndrome.Semantic proximity Read ↗

Genetics of Sotos syndrome.Semantic proximity Read ↗

Spectrum of NSD1 gene mutations in southern Chinese patients with Sotos syndrome.Semantic proximity Read ↗

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

A series of four patients with Sotos syndrome harboring novel NSD1 mutations: clinical and molecular description.Semantic proximity Read ↗

Adults with Sotos syndrome: review of 21 adults with molecularly confirmed NSD1 alterations, including a detailed case report of the oldest person.Semantic proximity Read ↗

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