Cargando…
PEX7 Mutations Cause Congenital Cataract Retinopathy and Late-Onset Ataxia and Cognitive Impairment: Report of Two Siblings and Review of the Literature
| Autores principales: | , , , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Korean Neurological Association
2015
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4387488/ https://www.ncbi.nlm.nih.gov/pubmed/25851898 http://dx.doi.org/10.3988/jcn.2015.11.2.197 |
| _version_ | 1782365279520555008 |
|---|---|
| author | Nanetti, Lorenzo Pensato, Viviana Leoni, Valerio Rizzetto, Manuela Caccia, Claudio Taroni, Franco Mariotti, Caterina Gellera, Cinzia |
| author_facet | Nanetti, Lorenzo Pensato, Viviana Leoni, Valerio Rizzetto, Manuela Caccia, Claudio Taroni, Franco Mariotti, Caterina Gellera, Cinzia |
| author_sort | Nanetti, Lorenzo |
| collection | PubMed |
| description | |
| format | Online Article Text |
| id | pubmed-4387488 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2015 |
| publisher | Korean Neurological Association |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-43874882015-04-07 PEX7 Mutations Cause Congenital Cataract Retinopathy and Late-Onset Ataxia and Cognitive Impairment: Report of Two Siblings and Review of the Literature Nanetti, Lorenzo Pensato, Viviana Leoni, Valerio Rizzetto, Manuela Caccia, Claudio Taroni, Franco Mariotti, Caterina Gellera, Cinzia J Clin Neurol Letter to the Editor Korean Neurological Association 2015-04 2015-03-26 /pmc/articles/PMC4387488/ /pubmed/25851898 http://dx.doi.org/10.3988/jcn.2015.11.2.197 Text en Copyright © 2015 Korean Neurological Association http://creativecommons.org/licenses/by-nc/3.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. |
| spellingShingle | Letter to the Editor Nanetti, Lorenzo Pensato, Viviana Leoni, Valerio Rizzetto, Manuela Caccia, Claudio Taroni, Franco Mariotti, Caterina Gellera, Cinzia PEX7 Mutations Cause Congenital Cataract Retinopathy and Late-Onset Ataxia and Cognitive Impairment: Report of Two Siblings and Review of the Literature |
| title | PEX7 Mutations Cause Congenital Cataract Retinopathy and Late-Onset Ataxia and Cognitive Impairment: Report of Two Siblings and Review of the Literature |
| title_full | PEX7 Mutations Cause Congenital Cataract Retinopathy and Late-Onset Ataxia and Cognitive Impairment: Report of Two Siblings and Review of the Literature |
| title_fullStr | PEX7 Mutations Cause Congenital Cataract Retinopathy and Late-Onset Ataxia and Cognitive Impairment: Report of Two Siblings and Review of the Literature |
| title_full_unstemmed | PEX7 Mutations Cause Congenital Cataract Retinopathy and Late-Onset Ataxia and Cognitive Impairment: Report of Two Siblings and Review of the Literature |
| title_short | PEX7 Mutations Cause Congenital Cataract Retinopathy and Late-Onset Ataxia and Cognitive Impairment: Report of Two Siblings and Review of the Literature |
| title_sort | pex7 mutations cause congenital cataract retinopathy and late-onset ataxia and cognitive impairment: report of two siblings and review of the literature |
| topic | Letter to the Editor |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4387488/ https://www.ncbi.nlm.nih.gov/pubmed/25851898 http://dx.doi.org/10.3988/jcn.2015.11.2.197 |
| work_keys_str_mv | AT nanettilorenzo pex7mutationscausecongenitalcataractretinopathyandlateonsetataxiaandcognitiveimpairmentreportoftwosiblingsandreviewoftheliterature AT pensatoviviana pex7mutationscausecongenitalcataractretinopathyandlateonsetataxiaandcognitiveimpairmentreportoftwosiblingsandreviewoftheliterature AT leonivalerio pex7mutationscausecongenitalcataractretinopathyandlateonsetataxiaandcognitiveimpairmentreportoftwosiblingsandreviewoftheliterature AT rizzettomanuela pex7mutationscausecongenitalcataractretinopathyandlateonsetataxiaandcognitiveimpairmentreportoftwosiblingsandreviewoftheliterature AT cacciaclaudio pex7mutationscausecongenitalcataractretinopathyandlateonsetataxiaandcognitiveimpairmentreportoftwosiblingsandreviewoftheliterature AT taronifranco pex7mutationscausecongenitalcataractretinopathyandlateonsetataxiaandcognitiveimpairmentreportoftwosiblingsandreviewoftheliterature AT mariotticaterina pex7mutationscausecongenitalcataractretinopathyandlateonsetataxiaandcognitiveimpairmentreportoftwosiblingsandreviewoftheliterature AT gelleracinzia pex7mutationscausecongenitalcataractretinopathyandlateonsetataxiaandcognitiveimpairmentreportoftwosiblingsandreviewoftheliterature |