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Novel AMPD2 mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities
| Autores principales: | , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Wolters Kluwer
2017
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5550382/ https://www.ncbi.nlm.nih.gov/pubmed/28815207 http://dx.doi.org/10.1212/NXG.0000000000000179 |
| _version_ | 1783256118598828032 |
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| author | Accogli, Andrea Iacomino, Michele Pinto, Francesca Orsini, Alessandro Vari, Maria Stella Selmi, Raed Torella, Annalaura Nigro, Vincenzo Minetti, Carlo Severino, Mariasavina Striano, Pasquale Capra, Valeria Zara, Federico |
| author_facet | Accogli, Andrea Iacomino, Michele Pinto, Francesca Orsini, Alessandro Vari, Maria Stella Selmi, Raed Torella, Annalaura Nigro, Vincenzo Minetti, Carlo Severino, Mariasavina Striano, Pasquale Capra, Valeria Zara, Federico |
| author_sort | Accogli, Andrea |
| collection | PubMed |
| description | |
| format | Online Article Text |
| id | pubmed-5550382 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2017 |
| publisher | Wolters Kluwer |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-55503822017-08-16 Novel AMPD2 mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities Accogli, Andrea Iacomino, Michele Pinto, Francesca Orsini, Alessandro Vari, Maria Stella Selmi, Raed Torella, Annalaura Nigro, Vincenzo Minetti, Carlo Severino, Mariasavina Striano, Pasquale Capra, Valeria Zara, Federico Neurol Genet Clinical/Scientific Notes Wolters Kluwer 2017-08-09 /pmc/articles/PMC5550382/ /pubmed/28815207 http://dx.doi.org/10.1212/NXG.0000000000000179 Text en Copyright © 2017 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License 4.0 (CC BY-NC-ND) (http://creativecommons.org/licenses/by-nc-nd/4.0/) , which permits downloading and sharing the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal. |
| spellingShingle | Clinical/Scientific Notes Accogli, Andrea Iacomino, Michele Pinto, Francesca Orsini, Alessandro Vari, Maria Stella Selmi, Raed Torella, Annalaura Nigro, Vincenzo Minetti, Carlo Severino, Mariasavina Striano, Pasquale Capra, Valeria Zara, Federico Novel AMPD2 mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities |
| title | Novel AMPD2 mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities |
| title_full | Novel AMPD2 mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities |
| title_fullStr | Novel AMPD2 mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities |
| title_full_unstemmed | Novel AMPD2 mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities |
| title_short | Novel AMPD2 mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities |
| title_sort | novel ampd2 mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities |
| topic | Clinical/Scientific Notes |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5550382/ https://www.ncbi.nlm.nih.gov/pubmed/28815207 http://dx.doi.org/10.1212/NXG.0000000000000179 |
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