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Article

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

Lipids in health and disease - 28 Dec 2019

Eskiocak Ali Haydar, Missaglia Sara, Moro Laura, Durdu Murat, Tavian Daniela

Abstract excerpt

BACKGROUND: Chanarin Dorfman Syndrome (CDS) is a rare autosomal recessive disorder characterized by the multisytemic accumulation of neutral lipids inside the cytoplasmic lipid droplets. This condition is caused by mutations in the abhydrolase domain containing 5 gene (ABHD5). In CDS the skin involvement is the prevalent and always observed clinical feature, consisting of a non-bullous congenital ichthyosiform...

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Identifiers

PMID: 31883530
DOI: 10.1186/s12944-019-1181-6
PMCID: PMC6935165

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A novel mutation of ABHD5 gene in a Chanarin Dorfman patient with unusual dermatological findings.PMID 31883530Read ↗

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