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Pontocerebellar hypoplasia type 6 caused by mutations inRARS2: definition of the clinical spectrum and molecular findings in five patients

✍ Scribed by Cassandrini, Denise; Cilio, Maria Roberta; Bianchi, Marzia; Doimo, Mara; Balestri, Martina; Tessa, Alessandra; Rizza, Teresa; Sartori, Geppo; Meschini, Maria Chiara; Nesti, Claudia; Tozzi, Giulia; Petruzzella, Vittoria; Piemonte, Fiorella; Bisceglia, Luigi; Bruno, Claudio; Dionisi-Vici, Carlo; D’Amico, Adele; Fattori, Fabiana; Carrozzo, Rosalba; Salviati, Leonardo; Santorelli, Filippo M.; Bertini, Enrico

Book ID: 118796582
Publisher: Springer
Year: 2012
Tongue: English
Weight: 448 KB
Volume: 36
Category: Article
ISSN: 0141-8955
DOI: 10.1007/s10545-012-9487-9

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