XYLT1 Mutations in Desbuquois Dysplasia Type 2

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 resp...

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Autores principales: Bui, Catherine, Huber, Céline, Tuysuz, Beyhan, Alanay, Yasemin, Bole-Feysot, Christine, Leroy, Jules G., Mortier, Geert, Nitschke, Patrick, Munnich, Arnold, Cormier-Daire, Valérie
Formato: Artigo
Lenguaje:Inglês
Publicado: Elsevier 2014
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3951945/
https://ncbi.nlm.nih.gov/pubmed/24581741
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2014.01.020
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