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Article

Genetic analysis and prenatal diagnosis in a Chinese with growth retardation, abnormal liver function, and microcephaly.

Molecular genetics & genomic medicine - 1 Sept 2021

Zhao Peiwei, Zhang Lei, Tan Li, Luo Sukun, Huang Yufeng, Peng Hanming, Cao Jiangxia, He Xuelian

Abstract excerpt

BACKGROUND: Congenital disorders of glycosylation (CDG) are a genetically heterogeneous group of disorders caused by defects in the synthesis and processing of glycoproteins. COG6-CDG is a kind of disorder caused by conserved oligomeric golgi complex 6 (COG6) deficiency. To date, only 19 patients with COG6-CDG have been reported. METHODS: We report a girl in a Chinese family with developmental delay, growth...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 34331832
DOI: 10.1002/mgg3.1751
PMCID: PMC8457690

Genes

COG6

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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