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

doi:10.1016/j.ajhg.2011.03.015

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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 funct...

Topics

Amino Acid Sequence
Animals
Chromosome Mapping
Cilia
Coat Protein Complex I
Codon, Nonsense
Cytoskeletal Proteins
Embryonic Development
Female
Hedgehog Proteins
Heterozygote
Homozygote
Humans

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Intracellular Signaling Peptides and Proteins

Male

Mice

Mice, Mutant Strains

Models, Molecular

Source

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Identifiers

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

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-21473986-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.