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Article

Mouse models for the Wolf-Hirschhorn deletion syndrome.

Human molecular genetics - 15 Jan 2001

Näf D, Wilson L A, Bergstrom R A, Smith R S, Goodwin N C, Verkerk A, van Ommen G J, Ackerman S L, Frankel W N, Schimenti J C

Abstract excerpt

Wolf-Hirschhorn syndrome (WHS) is a deletion syndrome caused by segmental haploidy of chromosome 4p16.3. Its hallmark features include a 'Greek warrior helmet' facial appearance, mental retardation, various midline defects and seizures. The WHS critical region (WHSCR) lies between the Huntington's disease gene, HD, and FGFR3. In mice, the homologs of these genes map to chromosome 5 in a region of conserved...

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Source

Identifiers

PMID: 11152656
DOI: 10.1093/hmg/10.2.91

Genes

FGFR3

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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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Mouse models for the Wolf-Hirschhorn deletion syndrome.PMID 11152656Read ↗

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WHSC1, a 90 kb SET Domain-Containing Gene, Expressed in Early Development and Homologous to a Drosophila Dysmorphy Gene Maps in the Wolf-Hirschhorn Syndrome Critical Region and is Fused to IgH in t(1;14) Multiple MyelomaSemantic proximity Read ↗

Unmasking of a hemizygous WFS1 gene mutation by a chromosome 4p deletion of 8.3 Mb in a patient with Wolf-Hirschhorn syndrome.Semantic proximity Read ↗

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