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

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 involv...

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Detalles Bibliográficos
Autores principales: Eskiocak, Ali Haydar, Missaglia, Sara, Moro, Laura, Durdu, Murat, Tavian, Daniela
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Short Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6935165/
https://www.ncbi.nlm.nih.gov/pubmed/31883530
http://dx.doi.org/10.1186/s12944-019-1181-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6935165/
https://www.ncbi.nlm.nih.gov/pubmed/31883530
http://dx.doi.org/10.1186/s12944-019-1181-6

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