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Title Milder presentation of autosomal dominant FAR1-related syndrome: report of the first middle eastern patient and review of the literature

2022-06-09

Abstract excerpt

FAR1-related phenotypes caused by 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 psychomotor developmental delayed, seizures, cataracts, growth retardation with microcephaly,

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Literature Corpus work
2dea664b-4397-50e1-8633-00fa19cff866
DOI
10.22541/au.165477622.23949606/v1
Open publication

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