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

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 wi...

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Detalles Bibliográficos
Autores principales:	Zhao, Peiwei, Zhang, Lei, Tan, Li, Luo, Sukun, Huang, Yufeng, Peng, Hanming, Cao, Jiangxia, He, Xuelian
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2021
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8457690/ https://www.ncbi.nlm.nih.gov/pubmed/34331832 http://dx.doi.org/10.1002/mgg3.1751

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