Further Delineation of CANT1 Phenotypic Spectrum and Demonstration of Its Role in Proteoglycan Synthesis

Further Delineation of CANT1 Phenotypic Spectrum and Demonstration of Its Role in Proteoglycan Synthesis

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...

Full description

Bibliographic Details
Main Authors: 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
Format: Online
Language:English
Published: Wiley Subscription Services, Inc., A Wiley Company 2012
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3427906/

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3427906/

Similar Items