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COG6-CDG: Two Novel Variants and Milder Phenotype in a Chinese Patient

12 Feb 2024

Abstract excerpt

Here, we present a Han Chinese pediatric girl highly suspected of congenial disorder of glycosylation type IIL (CDG2L; OMIM#614576). Her clinical symptoms include transferase abnormal, liver cirrhosis, hemogram, coagulopathy, growth retardation, intellectual disability, frequent infections, and enamel hypoplasia. Trio-genome sequencing identified in COG6 a paternal variant c.1672C>T (p.Gln558Ter) and a maternal...

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PMID: 40225945
DOI: 10.1155/2024/9857442

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