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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. [electronic resource] 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
- de Villemeur, Thierry Billette
- Rodriguez, Diana
Producer: 20120828
In:
Orphanet journal of rare diseases vol. 7
Availability: No items available.
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