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Mohammed  Almuqbil
Mohammed Almuqbil

Public Documents 1
Title Milder presentation of autosomal dominant FAR1-related syndrome: report of the...
Mohammed  Almuqbil
Ahlam AbuMelha

Mohammed Almuqbil

and 2 more

June 09, 2022
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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