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Article

Molecular basis of Sotos syndrome.

Hormone research - 1 Jan 2004

Niikawa Norio

Abstract excerpt

This paper describes the isolation of a novel human gene, NSD1, from the 5q35 breakpoint of t(5;8)(q35; q24.1) in a patient with Sotos syndrome, and NSD1 mutation analysis. Of 112 (95 Japanese and 17 non-Japanese) patients analyzed, 16 (14%) had a heterozygous NSD1 point mutation (10 protein truncation types and six missense types) and 50 (45%) a approximately 0.7-Mb microdeletion involving NSD1. The results...

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Source

Identifiers

PMID: 15539801
DOI: 10.1159/000080501

Genes

NSD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Molecular basis of Sotos syndrome.PMID 15539801Read ↗

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The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1: is it really a reversed Sotos syndrome?Semantic proximity Read ↗

[Clinical phenotypes and a genetic analysis of patients with Sotos syndrome].Semantic proximity Read ↗

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