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Article

Two cases of Chanarin-Dorfman syndrome with novel and recurrent mutations in the ABHD5 gene.

International journal of dermatology - 1 Jul 2021

Jiang Xingyuan, Zhong Weilong, Yu Bo, Lin Zhimiao, Wang Huijun

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Share to 1-Acylglycerol-3-Phosphate O-Acyltransferase
Share to Ichthyosiform Erythroderma, Congenital
Share to Lipid Metabolism, Inborn Errors

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Muscular Diseases

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Identifiers

PMID: 33569812
DOI: 10.1111/ijd.15432

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Two cases of Chanarin-Dorfman syndrome with novel and recurrent mutations in the ABHD5 gene.PMID 33569812Read ↗

Chanarin-Dorfman syndrome caused by a novel splice site mutation in ABHD5.Semantic proximity Read ↗

Two new mutations of the ABHD5 gene in a new adult case of Chanarin Dorfman syndrome: an uncommon lipid storage disease.Semantic proximity Read ↗

Correction:Clinical and genetic characterization of chanarin-dorfman syndrome patients: first report of large deletions in the ABHD5 geneSemantic proximity Read ↗

Bi-allelic nonsense mutations inABHD5 underlie a mild phenotype of Dorfman-Chanarin syndrome.Semantic proximity Read ↗

Molecular analysis of Chanarin-Dorfman syndrome (CDS) patients: Identification of novel mutations in the ABHD5 gene.Semantic proximity Read ↗

Dorfman-Chanarin syndrome without mental retardation caused by a homozygous ABHD5 splice site mutation that skips exon 6.Semantic proximity Read ↗

Chanarin-Dorfman syndrome: clinical report and novel mutation in ABHD5 gene.Semantic proximity Read ↗

Identification of a homozygous mutation in the ABHD5 gene in two non-consanguineous Iranian-Azari Turkish families with Chanarin-Dorfman syndromeSemantic proximity Read ↗

Clinical and genetic characterization of Chanarin-Dorfman syndrome patients: first report of large deletions in the ABHD5 gene.Semantic proximity Read ↗

A novel mutation of ABHD5 gene in a Chanarin Dorfman patient with unusual dermatological findings.Semantic proximity Read ↗

Clinical features of DFNA5.Semantic proximity Read ↗

Novel homozygous mutations of DNAH5 in Kartagener syndrome.Semantic proximity Read ↗

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