Chanarin–Dorfman syndrome: clinical/genetic features and natural history in six Pakistani patients

Chanarin–Dorfman syndrome: clinical/genetic features and natural history in six Pakistani patients

Abstract Background Chanarin–Dorfman syndrome (CDS; OMIM # 275630) is a rare neutral lipid storage disorder caused by mutation in ABHD5 (a/b hydrolase domain containing 5″) a cofactor for adipose triglyceride lipase (ATGL) resulting in intracellular accumulation of triacylglycerol (TG) in numerous b...

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Bibliographic Details
Main Authors: Nadia Waheed, Sadaqat Ijaz, Zafar Fayyaz
Format: Article
Language:English
Published: SpringerOpen 2021-08-01
Series:Egyptian Journal of Medical Human Genetics
Subjects:
Chanarin–Dorfman syndrome
Genetic mutation
Phenotype
Online Access:https://doi.org/10.1186/s43042-021-00189-2

Internet

https://doi.org/10.1186/s43042-021-00189-2

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