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Article

XYLT1 mutations in Desbuquois dysplasia type 2.

American journal of human genetics - 6 Mar 2014

Bui Catherine, Huber Céline, Tuysuz Beyhan, Alanay Yasemin, Bole-Feysot Christine, Leroy Jules G, Mortier Geert, Nitschke Patrick, Munnich Arnold, Cormier-Daire Valérie

Abstract excerpt

Desbuquois dysplasia (DBQD) is a severe condition characterized by short stature, joint laxity, and advanced carpal ossification. Based on the presence of additional hand anomalies, we have previously distinguished DBQD type 1 and identified CANT1 (calcium activated nucleotidase 1) mutations as responsible for DBQD type 1. We report here the identification of five distinct homozygous xylosyltransferase 1 (XYLT1)...

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Source

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Identifiers

PMID: 24581741
DOI: 10.1016/j.ajhg.2014.01.020
PMCID: PMC3951945

Genes

XYLT1
CANT1

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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XYLT1 mutations in Desbuquois dysplasia type 2.PMID 24581741Read ↗

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