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

Abstract 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 w...

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Bibliographic Details
Main Authors:	Ying Li (Author), Chuangwen Zhang (Author), Hongyu Zhang (Author), Weiqi Feng (Author), Qiuji Wang (Author), Ruixin Fan (Author)
Format:	Book
Published:	BMC, 2022-02-01T00:00:00Z.
Subjects:	article
Online Access:	Connect to this object online.
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