WDR35 mutation in siblings with Sensenbrenner syndrome: a ciliopathy with variable phenotype.

doi:10.1002/ajmg.a.35608

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Article

WDR35 mutation in siblings with Sensenbrenner syndrome: a ciliopathy with variable phenotype.

American journal of medical genetics. Part A - 1 Nov 2012

Bacino Carlos A, Dhar Shweta U, Brunetti-Pierri Nicola, Lee Brendan, Bonnen Penelope E

Abstract excerpt

Sensenbrenner syndrome and unclassified short rib-polydactyly conditions are ciliopathies with overlapping phenotypes and genetic heterogeneity. Mutations in WDR35 were identified recently in a sub-group of patients with Sensenbrenner syndrome and in a single family that presented with an unclass...

Topics

Amino Acid Sequence
Base Sequence
Bone and Bones
Craniosynostoses
Cytoskeletal Proteins
Ectodermal Dysplasia
Exome
Female
Hedgehog Proteins
Homozygote
Humans
Infant

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Intracellular Signaling Peptides and Proteins

Male

Mutation

Mutation, Missense

Pedigree

Phenotype

Source

Open in PubMed Open full text

Identifiers

PMID: 22987818
DOI: 10.1002/ajmg.a.35608
PMCID: PMC4000731

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-22987818-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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WDR35 mutation in siblings with Sensenbrenner syndrome: a ciliopathy with variable phenotype.PMID 22987818Read ↗

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A relatively mild skeletal ciliopathy phenotype consistent with cranioectodermal dysplasia is associated with a homozygous nonsynonymous mutation in WDR35.Semantic proximity Read ↗

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Expanding the phenotype associated with biallelic WDR60 mutations: Siblings with retinal degeneration and polydactyly lacking other features of short rib thoracic dystrophies.Semantic proximity Read ↗

Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome.Semantic proximity Read ↗

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