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Article

Mouse models of Wolf-Hirschhorn syndrome.

American journal of medical genetics. Part C, Seminars in medical genetics - 15 Nov 2008

Simon Ruth, Bergemann Andrew D

Abstract excerpt

Subtelomeric deletion syndromes represent a significant cause of mental retardation and craniofacial disease. However, for most of these syndromes the pathogenic genes have yet to be identified. Currently there is every indication that identification of these genes will be a slow process if we continue to rely strictly upon clinical data. An alternative approach is the use of mouse models to complement the...

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Identifiers

PMID: 18932126
DOI: 10.1002/ajmg.c.30184

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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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Mouse models of Wolf-Hirschhorn syndrome.PMID 18932126Read ↗

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Deletions involving genes WHSC1 and LETM1 may be necessary, but are not sufficient to cause Wolf-Hirschhorn Syndrome.Semantic proximity Read ↗

Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2.Semantic proximity Read ↗

Wolf-Hirschhorn Syndrome Candidate 1 Is Necessary for Correct Hematopoietic and B Cell DevelopmentSemantic proximity Read ↗

"Tandem" duplication of 4p16.1p16.3 chromosome region associated with 4p16.3pter molecular deletion resulting in Wolf-Hirschhorn syndrome phenotype.Semantic 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 ↗

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 ↗

Duplication of the Wolf-Hirschhorn syndrome critical region causes neurodevelopmental delay.Semantic proximity Read ↗

Wolf-Hirschhorn Syndrome-associated genes are enriched in motile neural crest and affect craniofacial development in <i>Xenopus laevis</i>Semantic proximity Read ↗

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