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Article

WDR45 mutations define a novel disease entity--static encephalopathy of childhood with neurodegeneration in adulthood.

Clinical genetics - 1 Sept 2013

Aminkeng F

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Identifiers

PMID: 23647500
DOI: 10.1111/cge.12183

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WDR45 mutations define a novel disease entity--static encephalopathy of childhood with neurodegeneration in adulthood.PMID 23647500Read ↗

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De novo variants in WDR45 underlie beta-propeller protein-associated neurodegeneration in five independent families.Semantic proximity Read ↗

WDR45-related encephalopathy mimicking Leigh syndrome associated with complex I deficiency: a case reportSemantic proximity Read ↗

WDR45B-related intellectual disability, spastic quadriplegia, epilepsy, and cerebral hypoplasia: A consistent neurodevelopmental syndrome.Semantic proximity Read ↗

A rare cause of epileptic encephalopathy: a beta-propeller protein associated neurodegeneration case with a new mutation and literature review.Semantic proximity Read ↗

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Infantile Developmental Delay Caused by Pathogenic Mutation in WDR45 Gene and Literature ReviewSemantic proximity Read ↗

El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype.Semantic proximity Read ↗

Intragenic deletion of the WDR45 gene in a male with encephalopathy, severe psychomotor disability, and epilepsy.Semantic proximity Read ↗

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