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

Lugli, L; Pollazzon, M; Bigoni, S; Caraffi, SG; Ferlini, A; Ferri, L; Morrone, A; Calabrese, O; Iughetti, L; Garavelli, L; Berardi, A

Lugli, L (通讯作者),Univ Hosp Modena, Mother Child Dept, Neonatol Unit, Via Pozzo 71, I-41100 Modena, Italy.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2022; 188 (1): 382