loading page

Title Milder presentation of autosomal dominant FAR1-related syndrome: report of the first middle eastern patient and review of the literature
  • Mohammed Almuqbil,
  • Ahlam AbuMelha,
  • Daniah Albokhari
Mohammed Almuqbil
King Saud bin Abdulaziz University for Health Sciences College of Medicine

Corresponding Author:[email protected]

Author Profile
Ahlam AbuMelha
Ministry of National Guard Health Affairs
Author Profile
Daniah Albokhari
Taibah University Faculty of Medicine
Author Profile


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,
03 Jun 2022Submitted to Clinical Case Reports
09 Jun 2022Submission Checks Completed
09 Jun 2022Assigned to Editor
13 Jun 2022Reviewer(s) Assigned
27 Jun 2022Review(s) Completed, Editorial Evaluation Pending
29 Jun 2022Editorial Decision: Revise Minor
21 Jul 20221st Revision Received
29 Jul 2022Submission Checks Completed
29 Jul 2022Assigned to Editor
29 Jul 2022Review(s) Completed, Editorial Evaluation Pending
11 Aug 2022Editorial Decision: Accept