Savoirs
Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASKmutations: confirmation of a recognizable phenotype and first description of a male mosaic patient
Des, Burglen Lydie, Garel Catherine, Touraine Renaud, Goizet Cyril, Barresi Sabina, Coussement Aurélie, Ioos Christine, Lazaro Leila, Joriot Sylvie, Desguerre Isabelle, Lacombe Didier, Bertini Enrico, Siffroi Jean-Pierre, Billette, Rodriguez Diana, Florence Petit, Chantot-Bastaraud Sandra, Milh Mathieu, Zanni Ginevra, Afenjar Alexandra