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Article

Novel WDR35 mutations in patients with cranioectodermal dysplasia (Sensenbrenner syndrome).

Clinical genetics - 1 Jan 2013

Hoffer J L, Fryssira H, Konstantinidou A E, Ropers H-H, Tzschach A

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 22486404
DOI: 10.1111/j.1399-0004.2012.01880.x

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Related research

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Novel WDR35 mutations in patients with cranioectodermal dysplasia (Sensenbrenner syndrome).PMID 22486404Read ↗

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

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

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

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar HypoplasiaSemantic proximity Read ↗

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

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

Novel variants in EDNRB gene in Waardenburg syndrome type II and SOX10 gene in PCWH syndrome.Semantic proximity Read ↗

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

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

WD40-Repeat Proteins in Ciliopathies and Congenital Disorders of Endocrine System.Semantic proximity Read ↗

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