Identification of CANT1 Mutations in Desbuquois Dysplasia

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 a s...

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Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2009
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2775828/
https://ncbi.nlm.nih.gov/pubmed/19853239
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2009.10.001
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