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Article

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

BMC medical genomics - 12 Feb 2022

Li Ying, Zhang Chuangwen, Zhang Hongyu, Feng Weiqi, Wang Qiuji, Fan Ruixin

Abstract excerpt

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 suspected at birth. CASE PRESENTATION: A 2-month-old boy from a non-consanguineous Chinese family without a family...

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Identifiers

PMID: 35151321
DOI: 10.1186/s12920-022-01160-9
PMCID: PMC8841085

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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