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Article

De novo truncating variants in WHSC1 recapitulate the Wolf-Hirschhorn (4p16.3 microdeletion) syndrome phenotype.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2019

Derar Nada, Al-Hassnan Zuhair N, Al-Owain Mohammed, Monies Dorota, Abouelhoda Mohamed, Meyer Brian F, Moghrabi Nabil, Alkuraya Fowzan S

Abstract excerpt

PURPOSE: Wolf-Hirschhorn syndrome (WHS) is a genomic disorder with a recognizable dysmorphology profile caused by hemizygosity at 4p16.3. Previous attempts have failed to map the minimal critical locus to a single gene, leaving open the possibility that the core phenotypic components of the syndrome are caused by the combined haploinsufficiency of multiple genes. METHODS: Clinical exome sequencing and "reverse"...

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Identifiers

PMID: 29892088
DOI: 10.1038/s41436-018-0014-8

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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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De novo truncating variants in WHSC1 recapitulate the Wolf-Hirschhorn (4p16.3 microdeletion) syndrome phenotype.PMID 29892088Read ↗

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