P045: Unraveling the complexity of the COG complex: A case report on a severe phenotype presentation of COG8-CDG

Autor: Saravanan, Deepika Pugalenthi, Mellin Sanchez, Estrella Lizbeth, Paul, Dustin
Zdroj: In Genetics in Medicine Open 2024 2 Supplement 1
Databáze: ScienceDirect