A Novel Homozygous ACBD5 Variant in an Emerging Peroxisomal Disorder Presenting with Retinal Dystrophy and a Review of the Literature.

Autor: Hasturk BA; Department of Pediatrics, Istanbul University-Cerrahpaşa, Cerrahpaşa Medical Faculty, Istanbul, Turkey., Cinar Ç; Department of Medical Genetics, Istanbul University-Cerrahpaşa, Cerrahpaşa Medical Faculty, Istanbul, Turkey., Zubarioglu T; Department of Pediatrics, Division of Pediatric Nutrition and Metabolism, Istanbul University-Cerrahpaşa, Cerrahpaşa Medical Faculty, Istanbul, Turkey., Tiryaki-Demir S; University of Health Sciences, Sisli Hamidiye Etfal Training and Research Hospital, Department of Ophthalmology, Istanbul, Turkey., Cansever MS; Department of Medical Services and Techniques, Vocational School of Health Services, Istanbul University-Cerrahpaşa, Istanbul, Turkey., Kiykim E; Department of Pediatrics, Division of Pediatric Nutrition and Metabolism, Istanbul University-Cerrahpaşa, Cerrahpaşa Medical Faculty, Istanbul, Turkey., Kalaycı Yigin A; Department of Medical Genetics, Istanbul University-Cerrahpaşa, Cerrahpaşa Medical Faculty, Istanbul, Turkey., Yalcinkaya C; Department of Neurology, Division of Pediatric Neurology, Istanbul University-Cerrahpaşa, Cerrahpaşa Medical Faculty, Istanbul, Turkey., Aktuglu-Zeybek C; Department of Pediatrics, Division of Pediatric Nutrition and Metabolism, Istanbul University-Cerrahpaşa, Cerrahpaşa Medical Faculty, Istanbul, Turkey.

Publikováno v: Molecular syndromology [Mol Syndromol] 2024 Jun; Vol. 15 (3), pp. 232-239. Date of Electronic Publication: 2024 Jan 25.