COG6-CDG: Expanding the phenotype with emphasis on glycosylation defects involved in the causation of male disorders of sex development

Mandel, H; Kfir, NC; Fedida, A; Biton, ES; Odeh, M; Kalfon, L; Ben-Harouch, S; Sheffer, VF; Hoffman, Y; Goldberg, Y; Dinwiddie, A; Dumin, E; Eran, A; Apel-Sarid, L; Tiosano, D; Falik-Zaccai, TC

Falik-Zaccai, TC (corresponding author), Galilee Med Ctr, Inst Human Genet, POB 21, IL-22100 Nahariyya, Israel.

CLINICAL GENETICS, 2020; 98 (4): 402

Abstract

COG6-congenital disorder of glycosylation (COG6-CDG) is caused by biallelic mutations inCOG6. To-date, 12 variants causing COG6-CDG in less than 20 pa......

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