Lethal COG6-CDG in neonatal patient with arachnodactyly, joint contractures, and skin manifestations: Founder mutation in the Southeastern European population?

Ververi, A; Stathopoulou, T; Kontou, A; Farini, M; Vlahou, G; Demiris, N; Sarafidis, K

Ververi, A (通讯作者)，Ippokrate Gen Hosp, Neonatal Intens Care Unit, Konstantinoupoleos St, Thessaloniki, Greece.

PEDIATRIC DERMATOLOGY, 2022; 39 (2): 314

Abstract

Herein, we report a lethal case of the ultra-rare COG6-congenital disorder of glycosylation (CDG) presenting with skin manifestations (scaling and ero......

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