Article
A founder mutation in PEX12 among Egyptian patients in peroxisomal biogenesis disorder.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Jul 2021
Zaki Maha S, Issa Mahmoud Y, Thomas Manal M, Elbendary Hasnaa M, Rafat Karima, Al Menabawy Nihal M, Selim Laila A, Ismail Samira, Abdel-Salam Ghada M, Gleeson Joseph G
Abstract excerpt
At least 14 distinctive PEX genes function in the biogenesis of peroxisomes. Biallelic alterations in the peroxisomal biogenesis factor 12 (PEX12) gene lead to Zellweger syndrome spectrum (ZSS) with variable clinical expressivity ranging from early lethality to mildly affected with long-term survival. Herein, we define 20 patients derived from 14 unrelated Egyptian families, 19 of which show a homozygous PEX12...
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