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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
Documents
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
13 pages
English
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