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Bertini E 1
Showing records 1 to 1 | Display all abstracts from Bertini E49266 Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient
Burglen L; Chantot-Bastaraud S; Garel C; Milh M; Touraine R; Zanni G; Petit F; Afenjar A; Goizet C; Barresi S; Coussement A; Ioos C; Lazaro L; Joriot S; Desguerre I; Lacombe D; des Portes V; Bertini E; Siffroi JP; Billette de Villemeur T; Rodriguez D
Orphanet Journal of Rare Diseases 2012; 7: 18
