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Article

B3GALT6-linkeropathy: Three illustrative patients spanning the disease spectrum.

European journal of medical genetics - 1 Oct 2023

Coetzer Kimberly Christine, Dieckerhoff Jost, Wollnik Bernd, Moosa Shahida

Abstract excerpt

The linkeropathies are a group of rare disorders, characterized by overlapping clinical features involving the skeletal and connective tissues. Each "linker" gene encodes an enzyme responsible for the addition of glycosaminoglycan chains to proteoglycans via a common tertrasaccharine linker region. The original descriptions of the autosomal recessive B3GALT6-related disorder showed that the associated clinical...

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Identifiers

PMID: 37657630
DOI: 10.1016/j.ejmg.2023.104829

Genes

B3GALT6

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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