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
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| Description | scientific article |
| Author/s |
author: Didier Lacombe Jean-Pierre Siffroi Catherine Garel Sabina Barresi Thierry Billette de Villemeur Sandra Chantot-Bastaraud Vincent des Portes Ginevra Zanni Alexandra Afenjar Enrico Bertini Florence Petit |
| Publication date | 2012 |
| Language | English |
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