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Article

A homozygous B3GAT3 mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes.

American journal of medical genetics. Part A - 1 Nov 2015

Jones Kelly L, Schwarze Ulrike, Adam Margaret P, Byers Peter H, Mefford Heather C

Abstract excerpt

Linkeropathies are a group of syndromes characterized by short stature, radio-ulnar synostosis, decreased bone density, congenital contractures and dislocations, joint laxity, broad digits, brachycephaly, small mouth, prominent eyes, short or webbed neck, congenital heart defects and mild developmental delay. Linkeropathies are due to enzymatic defects in the synthesis of the common linker region that joins the...

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Source

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Identifiers

PMID: 26086840
DOI: 10.1002/ajmg.a.37209
PMCID: PMC4654953

Genes

XYLT1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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