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Severe phenotypes of B3GAT3-related disorder caused by two heterozygous variants: a case report and literature review

BACKGROUND: Linkeropathies refers to a series of extremely rare hereditary connective tissue diseases affected by various glycosyltransferases in the biosynthesis of proteoglycans. We report for the first time two heterozygous variants of B3GAT3 in a Chinese infant, in whom Marfan syndrome was suspe...

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Detalles Bibliográficos
Autores principales:	Li, Ying, Zhang, Chuangwen, Zhang, Hongyu, Feng, Weiqi, Wang, Qiuji, Fan, Ruixin
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2022
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8841085/ https://www.ncbi.nlm.nih.gov/pubmed/35151321 http://dx.doi.org/10.1186/s12920-022-01160-9

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