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Article

Progressive symmetric erythrokeratodermia with spinocerebellar ataxia due to ELOVL4 mutation in a Chinese family.

Indian journal of dermatology, venereology and leprology - 1 Jan 2000

Wang Zijuan, Lin Zhimiao, Wang Huijun

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PMID: 34623043
DOI: 10.25259/IJDVL_488_20

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Progressive symmetric erythrokeratodermia with spinocerebellar ataxia due to ELOVL4 mutation in a Chinese family.PMID 34623043Read ↗

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

A Novel Mutation in ELOVL4 Leading to Spinocerebellar Ataxia (SCA) With the Hot Cross Bun Sign but Lacking Erythrokeratodermia: A Broadened Spectrum of SCA34.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 ↗

A family study and literature review of ELOVL4-associated spinocerebellar ataxia type 34Semantic proximity Read ↗

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

Progressive symmetrical erythrokeratoderma: report of two Chinese families and evaluation for mutations in the loricrin, connexin 30.3 and connexin 31 genes.Semantic proximity Read ↗

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

No exonic mutations at GJB2, GJB3, GJB4, GJB6, ARS (Component B), and LOR genes responsible for a Chinese patient affected by progressive symmetric erythrokeratodermia with pseudoainhum.Semantic proximity Read ↗

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

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

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