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