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Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients

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Description scientific article published on 8 May 2012
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author: Rosalba Carrozzo  Giulia Tozzi  Marzia Bianchi  Fabiana Fattori  Filippo Maria Santorelli  Mara Doimo  Claudia Nesti  Carlo Dionisi-Vici  Alessandra Tessa  Adele D'Amico  Maria Chiara Meschini  Fiorella Piemonte  Vittoria Petruzzella  Luigi Bisceglia  Enrico Bertini  Teresa Rizza 

Publication date May 8, 2012
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