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Article

Novel and recurrent XYLT1 mutations in two Turkish families with Desbuquois dysplasia, type 2.

Journal of human genetics - 1 Mar 2017

Guo Long, Elcioglu Nursel H, Iida Aritoshi, Demirkol Yasemin K, Aras Seda, Matsumoto Naomichi, Nishimura Gen, Miyake Noriko, Ikegawa Shiro

Abstract excerpt

Desbuquois dysplasia (DBQD) is an autosomal recessive skeletal disorder characterized by growth retardation, joint laxity, short extremities, and progressive scoliosis. DBQD is classified into two types based on the presence (DBQD1) or absence (DBQD2) of characteristic hand abnormalities. CANT1 mutations have been reported in both DBQD1 and DBQD2. Recently, mutations in the gene encoding xylosyltransferase 1...

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Source

Identifiers

PMID: 27881841
DOI: 10.1038/jhg.2016.143

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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Novel and recurrent XYLT1 mutations in two Turkish families with Desbuquois dysplasia, type 2.PMID 27881841Read ↗

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