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Article

Swiss Family with Dominant Stargardt Disease Caused by a Recurrent Mutation in the ELOVL4 Gene.

Klinische Monatsblatter fur Augenheilkunde - 1 Apr 2016

Tran H V, Moret E, Vaclavik V, Marcelli F, Abitbol M M, Munier F L, Schorderet D F

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Source

Identifiers

PMID: 27116512
DOI: 10.1055/s-0042-102585

Genes

ELOVL4

Provenance

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Related research

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Swiss Family with Dominant Stargardt Disease Caused by a Recurrent Mutation in the ELOVL4 Gene.PMID 27116512Read ↗

Stargardt Phenotype Associated With Two ELOVL4 Promoter Variants and ELOVL4 Downregulation: New Possible Perspective to Etiopathogenesis?Semantic proximity Read ↗

Clinical and Genetic Spectrum of Stargardt Disease in Argentinean PatientsSemantic proximity Read ↗

A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophySemantic proximity Read ↗

A novel mutation in the ELOVL4 gene causes autosomal dominant Stargardt-like macular dystrophy.Semantic proximity Read ↗

Absence of Genotype/Phenotype Correlations Requires Molecular Diagnostic to Ascertain Stargardt and Stargardt-Like Swiss Patients.Semantic proximity Read ↗

Analysis of ELOVL4 and PRPH2 genes in Turkish Stargardt disease patients.Semantic proximity Read ↗

Diverse macular dystrophy phenotype caused by a novel complex mutation in the ELOVL4 gene.Semantic proximity Read ↗

A New ELOVL4 Mutation in a Case of Spinocerebellar Ataxia With Erythrokeratodermia.Semantic proximity Read ↗

A novel recessive mutation in the gene ELOVL4 causes a neuro-ichthyotic disorder with variable expressivity.Semantic proximity Read ↗

Longitudinal follow-up of siblings with a discordant Stargardt disease phenotype.Semantic proximity Read ↗

Progressive symmetric erythrokeratodermia with spinocerebellar ataxia due to ELOVL4 mutation in a Chinese family.Semantic proximity Read ↗

Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large French-Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia.Semantic proximity Read ↗

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