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Article

[Sotos syndrome: a novel nonsense mutation in NSD1 gene, presenting with neonatal cutis laxa].

Anales de pediatria (Barcelona, Spain : 2003) - 1 Aug 2011

Cortès-Saladelafont E, Arias-Sáez K, Esteban-Oliva D, Coroleu-Lletget W, Martín-Jiménez P, Pintos-Morell G

Abstract excerpt

Sotos syndrome is an overgrowth condition characterized by facial gestalt, macrocephaly, excessive height, and different degrees of developmental delay. We report the case of a 20-month-old boy with a confirmatory molecular study, showing a novel nonsense mutation in NSD1 gene, presenting cutis laxa as the main phenotypic trait in the neonatal period. This association has been previously described in 3 patients...

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Identifiers

PMID: 21482210
DOI: 10.1016/j.anpedi.2011.02.018

Genes

NSD1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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