Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis.
Nizon M; Huber C; De Leonardis F; Merrina R; Forlino A; Fradin M; Tuysuz B; Abu-Libdeh BY; Alanay Y; Albrecht B; Al-Gazali L; Basaran SY; Clayton-Smith J; Désir J; Gill H; Greally MT; Koparir E; van Maarle MC; MacKay S; Mortier G; Morton J; Sillence D; Vilain C; Young I; Zerres K; Le Merrer M; Munnich A; Le Goff C; Rossi A; Cormier-Daire V; Human Mutation, 2012, vol. 33, issue 8, p 1261, ISSN 10981004. ISBN 10981004.

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