Correspondence on "Disorder of sex development associated with a novel homozygous nonsense mutation in COG6 expands the phenotypic spectrum of COG6-CDG".
作者信息
Lugli Licia, Pollazzon Marzia, Bigoni Stefania, Caraffi Stefano Giuseppe, Ferlini Alessandra, Ferri Lorenzo, Morrone Amelia, Calabrese Olga, Iughetti Lorenzo, Garavelli Livia, Berardi Alberto
机构信息
Neonatology Unit, Mother-Child Department, University Hospital of Modena, Modena, Italy.
Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
出版信息
Am J Med Genet A. 2022 Jan;188(1):382-383. doi: 10.1002/ajmg.a.62511. Epub 2021 Sep 25.
PMID:34562059
Abstract
摘要
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