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A novel ABHD5 mutation in two Chanarin Dorfman siblings with severe and heterogeneous clinical phenotype
| Autores principales: | , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Chongqing Medical University
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10308162/ https://www.ncbi.nlm.nih.gov/pubmed/37396517 http://dx.doi.org/10.1016/j.gendis.2022.08.005 |
| _version_ | 1785066190050164736 |
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| author | Elsayed, Solaf Mohamed Torre, Enza Tavian, Daniela Moro, Laura Angelini, Corrado Abdel Ghaffar, Tawhida Y. Zalata, Khalid Fahmy, Enas Ezzeldein Missaglia, Sara |
| author_facet | Elsayed, Solaf Mohamed Torre, Enza Tavian, Daniela Moro, Laura Angelini, Corrado Abdel Ghaffar, Tawhida Y. Zalata, Khalid Fahmy, Enas Ezzeldein Missaglia, Sara |
| author_sort | Elsayed, Solaf Mohamed |
| collection | PubMed |
| description | |
| format | Online Article Text |
| id | pubmed-10308162 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2022 |
| publisher | Chongqing Medical University |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-103081622023-06-30 A novel ABHD5 mutation in two Chanarin Dorfman siblings with severe and heterogeneous clinical phenotype Elsayed, Solaf Mohamed Torre, Enza Tavian, Daniela Moro, Laura Angelini, Corrado Abdel Ghaffar, Tawhida Y. Zalata, Khalid Fahmy, Enas Ezzeldein Missaglia, Sara Genes Dis Rapid Communication Chongqing Medical University 2022-08-30 /pmc/articles/PMC10308162/ /pubmed/37396517 http://dx.doi.org/10.1016/j.gendis.2022.08.005 Text en © 2022 The Authors. Publishing services by Elsevier B.V. on behalf of KeAi Communications Co., Ltd. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/). |
| spellingShingle | Rapid Communication Elsayed, Solaf Mohamed Torre, Enza Tavian, Daniela Moro, Laura Angelini, Corrado Abdel Ghaffar, Tawhida Y. Zalata, Khalid Fahmy, Enas Ezzeldein Missaglia, Sara A novel ABHD5 mutation in two Chanarin Dorfman siblings with severe and heterogeneous clinical phenotype |
| title | A novel ABHD5 mutation in two Chanarin Dorfman siblings with severe and heterogeneous clinical phenotype |
| title_full | A novel ABHD5 mutation in two Chanarin Dorfman siblings with severe and heterogeneous clinical phenotype |
| title_fullStr | A novel ABHD5 mutation in two Chanarin Dorfman siblings with severe and heterogeneous clinical phenotype |
| title_full_unstemmed | A novel ABHD5 mutation in two Chanarin Dorfman siblings with severe and heterogeneous clinical phenotype |
| title_short | A novel ABHD5 mutation in two Chanarin Dorfman siblings with severe and heterogeneous clinical phenotype |
| title_sort | novel abhd5 mutation in two chanarin dorfman siblings with severe and heterogeneous clinical phenotype |
| topic | Rapid Communication |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10308162/ https://www.ncbi.nlm.nih.gov/pubmed/37396517 http://dx.doi.org/10.1016/j.gendis.2022.08.005 |
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