Milder presentation of autosomal dominant fatty acyl CoA reductase 1‐related syndrome: Report of the first Middle Eastern patient and review of the literature

Milder presentation of autosomal dominant fatty acyl CoA reductase 1‐related syndrome: Report of the first Middle Eastern patient and review of the literature

Abstract The FAR1‐related phenotypes caused by the FAR1 gene encodes the peroxisomal protein fatty acyl‐CoA reductase 1 (FAR1), which is required to reduce fatty acids to fatty alcohols used to form ether‐linked alkyl bonds. Biallelic loss‐of‐function variants have been associated with severe psycho...

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Bibliographic Details
Main Authors: Mohammed Almuqbil, Ahlam AbuMelha, Daniah Albokhari
Format: Article
Language:English
Published: Wiley 2022-10-01
Series:Clinical Case Reports
Subjects:
CSPSD
Cataracts
FAR1‐related syndrome
Spastic paraparesis
speech delay
seizures
Online Access:https://doi.org/10.1002/ccr3.6307

Internet

https://doi.org/10.1002/ccr3.6307

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