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Novel mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities. | LitMetric
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Novel mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities.

Andrea Accogli Michele Iacomino Francesca Pinto Alessandro Orsini Maria Stella Vari Raed Selmi Annalaura Torella Vincenzo Nigro Carlo Minetti Mariasavina Severino Pasquale Striano Valeria Capra Federico Zara

Neurol Genet

Istituto G. Gaslini (A.A., M.I., F.P., A.O., M.S.V., C.M., M.S., P.S., V.C., F.Z.), Genova; Università degli Studi di Genova (A.A., M.I., C.M., P.S.); Ospedale San Paolo (R.S.), Milano, Italy; Dipartimento di Biochimica Biofisica e Patologia Generale (A.T., V.N.), Seconda Università di Napoli; and Telethon Institute of Genetics and Medicine (A.T., V.N.).

Published: October 2017

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 Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5550382PMC
http://dx.doi.org/10.1212/NXG.0000000000000179DOI Listing

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