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Article

De novo nonsense mutation in WHSC1 (NSD2) in patient with intellectual disability and dysmorphic features.

Journal of human genetics - 1 Jul 2018

Lozier Ekaterina R, Konovalov Fedor A, Kanivets Ilya V, Pyankov Denis V, Koshkin Philip A, Baleva Larisa S, Sipyagina Alla E, Yakusheva Elena N, Kuchina Anastasiya E, Korostelev Sergey A

Abstract excerpt

Intellectual disability is the most common developmental disorder caused by chromosomal aberrations as well as single-nucleotide variants (SNVs) and small insertions/deletions (indels). Here we report identification of a novel, probably pathogenic mutation in the WHSC1 gene in a patient case with phenotype overlapping the features of Wolf-Hirschhorn syndrome. Deletions involving WHSC1 (Wolf-Hirschhorn syndrome...

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PMID: 29760529
DOI: 10.1038/s10038-018-0464-5

Genes

NSD2

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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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