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Article

Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis.

American journal of human genetics - 8 Apr 2011

Mill Pleasantine, Lockhart Paul J, Fitzpatrick Elizabeth, Mountford Hayley S, Hall Emma A, Reijns Martin A M, Keighren Margaret, Bahlo Melanie, Bromhead Catherine J, Budd Peter, Aftimos Salim, Delatycki Martin B, Savarirayan Ravi, Jackson Ian J, Amor David J

Abstract excerpt

Defects in cilia formation and function result in a range of human skeletal and visceral abnormalities. Mutations in several genes have been identified to cause a proportion of these disorders, some of which display genetic (locus) heterogeneity. Mouse models are valuable for dissecting the function of these genes, as well as for more detailed analysis of the underlying developmental defects. The short-rib...

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Identifiers

PMID: 21473986
DOI: 10.1016/j.ajhg.2011.03.015
PMCID: PMC3071922

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis.PMID 21473986Read ↗

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