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Article

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

American journal of medical genetics. Part A - 1 Mar 2016

Smith Christopher, Lamont Ryan E, Wade Andrew, Bernier Francois P, Parboosingh Jillian S, Innes A Micheil

Abstract excerpt

Ciliopathies are a class of clinically and genetically heterogeneous disorders characterized by deficits of the primary cilium, an important organelle for cellular signaling and development. Here we report on a patient from a consanguineous family presenting with renal cysts, short stature, distinctive facial features, missing teeth, brachydactyly, narrow chest, and abnormal ribs. His phenotype resembled a...

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PMID: 26691894
DOI: 10.1002/ajmg.a.37514

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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.

Related research

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Research trail→

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A relatively mild skeletal ciliopathy phenotype consistent with cranioectodermal dysplasia is associated with a homozygous nonsynonymous mutation in WDR35.PMID 26691894Read ↗

WDR35 mutation in siblings with Sensenbrenner syndrome: a ciliopathy with variable phenotype.Semantic proximity Read ↗

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

Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic WDR35 mutations.Semantic proximity Read ↗

WDR35 variants in a cranioectodermal dysplasia patient with early onset end-stage renal disease and retinal dystrophy.Semantic proximity Read ↗

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 ↗

Interfamilial clinical variability in four Polish families with cranioectodermal dysplasia and identical compound heterozygous variants in WDR35.Semantic proximity Read ↗

Prenatal diagnosis of cranioectodermal dysplasia: a case report and review of the literature.Semantic proximity Read ↗

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

Expanding the phenotypic spectrum consequent upon de novo WDR37 missense variants.Semantic proximity Read ↗

Uncommon runs of homozygosity disclose homozygous missense mutations in two ciliopathy-related genes (SPAG17 and WDR35) in a patient with multiple brain and skeletal anomalies.Semantic proximity Read ↗

Respiratory motile cilia dysfunction in a patient with cranioectodermal dysplasia.Semantic proximity Read ↗

Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60.Semantic proximity Read ↗

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