Disorder of sex development associated with a novel homozygous nonsense mutation in COG6 expands the phenotypic spectrum of COG6-CDG

Lugli, L; Bariola, MC; Ferri, L; Lucaccioni, L; Bertucci, E; Cattini, U; Torcetta, F; Morrone, A; Iughetti, L; Berardi, A

Lugli, L (corresponding author), Univ Hosp Modena, Mother Child Dept, Neonatol Unit, Via Pozzo 71, I-41124 Modena, Italy.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2021; 185 (4): 1187

Abstract

Congenital disorders of glycosylation (CDG) are an expanding group of metabolic disorders that result from abnormal protein glycosylation. A special s......

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