Article
Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis.
Human mutation - 1 Aug 2012
Nizon Mathilde, Huber Céline, De Leonardis Fabio, Merrina Rodolphe, Forlino Antonella, Fradin Mélanie, Tuysuz Beyhan, Abu-Libdeh Bassam Y, Alanay Yasemin, Albrecht Beate, Al-Gazali Lihadh, Basaran Sarenur Yilmaz, Clayton-Smith Jill, Désir Julie, Gill Harinder, Greally Marie T, Koparir Erkan, van Maarle Merel C, MacKay Sara, Mortier Geert, Morton Jenny, Sillence David, Vilain Catheline, Young Ian, Zerres Klaus, Le Merrer Martine, Munnich Arnold, Le Goff Carine, Rossi Antonio, Cormier-Daire Valérie
Abstract excerpt
Desbuquois dysplasia (DD) is characterized by antenatal and postnatal short stature, multiple dislocations, and advanced carpal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies. We have identified mutations in calcium activated nucleotidase 1 gene (CANT1) in DD type 1. Recently, CANT1 mutations have been reported in the...
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