Spectrum of pontocerebellar hypoplasia in 13 girls and boys with <it>CASK </it>mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient

by Burglen Lydie, Chantot-Bastaraud Sandra, Garel Catherine, Milh Mathieu, Touraine Renaud, Zanni Ginevra, Petit Florence, Afenjar Alexandra, Goizet Cyril, Barresi Sabina, Coussement Aurélie, Ioos Christine, Lazaro Leila, Joriot Sylvie, Desguerre Isabelle, Lacombe Didier, des Portes Vincent, Bertini Enrico, Siffroi Jean-Pierre, Billette de Villemeur Thierry, Rodriguez Diana
Published 2012-03-01