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Article

Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic WDR35 mutations.

American journal of medical genetics. Part A - 1 May 2017

Walczak-Sztulpa Joanna, Wawrocka Anna, Sobierajewicz Agata, Kuszel Lukasz, Zawadzki Jan, Grenda Ryszard, Swiader-Lesniak Anna, Kocyla-Karczmarewicz Beata, Wnuk Anna, Latos-Bielenska Anna, Chrzanowska Krystyna H

Abstract excerpt

Sensenbrenner syndrome (cranioectodermal dysplasia, CED) is a very rare autosomal recessive ciliopathy. Cranioectodermal dysplasia is characterized by craniofacial, skeletal, and ectodermal abnormalities. About 50 patients have been described to date. Sensenbrenner syndrome belongs to a group of ciliary chondrodysplasias and is a genetically heterogeneous disorder. Mutations in five genes: IFT122, WDR35, IFT43,...

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Identifiers

PMID: 28332779
DOI: 10.1002/ajmg.a.38163

Genes

IFT43
IFT52

Variants

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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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Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic WDR35 mutations.PMID 28332779Read ↗

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

Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease.Semantic proximity Read ↗

Sensenbrenner syndrome (Cranioectodermal dysplasia): clinical and molecular analyses of 39 patients including two new patients.Semantic proximity Read ↗

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

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

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

Identical IFT140 Variants Cause Variable Skeletal Ciliopathy Phenotypes—Challenges for the Accurate DiagnosisSemantic proximity Read ↗

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

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

Ciliopathies: Coloring outside of the lines.Semantic proximity Read ↗

Cellular ciliary phenotyping indicates pathogenicity of novel variants in IFT140 and confirms a Mainzer–Saldino syndrome diagnosisSemantic proximity Read ↗

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