Disorder of sex development associated with a novel homozygous nonsense mutation in COG6 expands the phenotypic spectrum of COG6‐CDG
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L. Iughetti | A. Morrone | L. Lugli | E. Bertucci | A. Berardi | L. Ferri | L. Lucaccioni | Maria Carolina Bariola | Umberto Cattini | F. Torcetta