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

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

Abstract 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 ski...

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Bibliographic Details
Main Authors: Ali Haydar Eskiocak, Sara Missaglia, Laura Moro, Murat Durdu, Daniela Tavian
Format: Article
Language:English
Published: BMC 2019-12-01
Series:Lipids in Health and Disease
Subjects:
Chanarin-Dorfman syndrome
Ichthyosis
Lipid disorder
Liver involvement
Pityriasis rubra pilaris
Hyperlipidemia
Online Access:https://doi.org/10.1186/s12944-019-1181-6

Internet

https://doi.org/10.1186/s12944-019-1181-6

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