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Article

Identification of CANT1 mutations in Desbuquois dysplasia.

American journal of human genetics - 1 Nov 2009

Huber Céline, Oulès Bénédicte, Bertoli Marta, Chami Mounia, Fradin Mélanie, Alanay Yasemin, Al-Gazali Lihadh I, Ausems Margreet G E M, Bitoun Pierre, Cavalcanti Denise P, Krebs Alexander, Le Merrer Martine, Mortier Geert, Shafeghati Yousef, Superti-Furga Andrea, Robertson Stephen P, Le Goff Carine, Muda Andrea Onetti, Paterlini-Bréchot Patrizia, Munnich Arnold, Cormier-Daire Valérie

Abstract excerpt

Desbuquois dysplasia is a severe condition characterized by short stature, joint laxity, scoliosis, and advanced carpal ossification with a delta phalanx. Studying nine Desbuquois families, we identified seven distinct mutations in the Calcium-Activated Nucleotidase 1 gene (CANT1), which encodes...

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Identifiers

PMID: 19853239
DOI: 10.1016/j.ajhg.2009.10.001
PMCID: PMC2775828

Genes

CANT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19853239-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Identification of CANT1 mutations in Desbuquois dysplasia.PMID 19853239Read ↗

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<i>CANT1</i> mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variantSemantic proximity Read ↗

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