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Article

dHPLC screening of the NSD1 gene identifies nine novel mutations--summary of the first 100 Sotos syndrome mutations.

Annals of human genetics - 1 Mar 2005

Melchior Linea, Schwartz Marianne, Duno Morten

Abstract excerpt

Sotos syndrome belongs to the family of overgrowth syndromes and is characterized by large head circumference, craniofacial anomalies, advanced bone age and mental retardation. The syndrome is due to haploinsufficiency of the NSD1 gene, consisting of 23 exons with an open reading frame of 8088bp, which makes mutation screening by direct sequencing quite a laborious and expensive task. We have developed a dHPLC...

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Source

Identifiers

PMID: 15720303
DOI: 10.1046/j.1529-8817.2004.00150.x

Genes

NSD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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dHPLC screening of the NSD1 gene identifies nine novel mutations--summary of the first 100 Sotos syndrome mutations.PMID 15720303Read ↗

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