Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing

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Molecular genetics and metabolism - ISSN 1096-7192-113:3 (2014) p. 230-235
Auteur(s)
    Frederic R. Acke, Fransiska Malfait, Olivier M. Vanakker, Wouter Steyaert, Kim De Leeneer, Geert Mortier, Ingeborg Dhooge, Anne De Paepe, Els M.R. De Leenheer, Paul J. Coucke