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Article

Multiple congenital malformations of Wolf-Hirschhorn syndrome are recapitulated in Fgfrl1 null mice.

Disease models & mechanisms - 1 Jan 2000

Catela Catarina, Bilbao-Cortes Daniel, Slonimsky Esfir, Kratsios Paschalis, Rosenthal Nadia, Te Welscher Pascal

Abstract excerpt

Wolf-Hirschhorn syndrome (WHS) is caused by deletions in the short arm of chromosome 4 (4p) and occurs in about one per 20,000 births. Patients with WHS display a set of highly variable characteristics including craniofacial dysgenesis, mental retardation, speech problems, congenital heart defects, short stature and a variety of skeletal anomalies. Analysis of patients with 4p deletions has identified two WHS...

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Source

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Identifiers

PMID: 19383940
DOI: 10.1242/dmm.002287
PMCID: PMC2675798

Genes

FGFRL1

Provenance

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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Multiple congenital malformations of Wolf-Hirschhorn syndrome are recapitulated in Fgfrl1 null mice.PMID 19383940Read ↗

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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 ↗

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