Further delineation of the phenotypic spectrum of ISCA2 defect: A report of ten new cases

Alfadhel, M; Nashabat, M; Alrifai, MT; Alshaalan, H; Al Mutairi, F; Al-Shahrani, SA; Plecko, B; Almass, R; Alsagob, M; Almutairi, FB; Al-Rumayyan, A; Al-Twaijri, W; Al-Owain, M; Taylor, RW; Kaya, N

Alfadhel, M (reprint author), King Saud bin Abdulaziz Univ Hlth Sci, King Abdulaziz Med City, Dept Pediat, Div Genet, POB 22490, Riyadh 11426, Saudi Arabia.; Kaya, N (reprint author), King Faisal Specialist Hosp & Res Ctr, Dept Genet, Neurogenet Unit, MBC

EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, 2018; 22 (1): 46

Abstract

Iron-Sulfur Cluster (ISC) biogenesis is a vital cellular process required to produce various ISC-containing proteins. These ISC proteins are responsib......

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