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CHARGE syndrome with de novo frameshift mutation in a patient with total retinal detachment and large choroidal coloboma
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8859801/ https://www.ncbi.nlm.nih.gov/pubmed/35243138 http://dx.doi.org/10.1016/j.ajoc.2022.101352 |
| _version_ | 1784654537169043456 |
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| author | Yu-Chuan Kang, Eugene Wang, Nan-Kai Wu, Wei-Chi |
| author_facet | Yu-Chuan Kang, Eugene Wang, Nan-Kai Wu, Wei-Chi |
| author_sort | Yu-Chuan Kang, Eugene |
| collection | PubMed |
| description | |
| format | Online Article Text |
| id | pubmed-8859801 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2022 |
| publisher | Elsevier |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-88598012022-03-02 CHARGE syndrome with de novo frameshift mutation in a patient with total retinal detachment and large choroidal coloboma Yu-Chuan Kang, Eugene Wang, Nan-Kai Wu, Wei-Chi Am J Ophthalmol Case Rep Image Elsevier 2022-02-02 /pmc/articles/PMC8859801/ /pubmed/35243138 http://dx.doi.org/10.1016/j.ajoc.2022.101352 Text en © 2022 Published by Elsevier Inc. 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 | Image Yu-Chuan Kang, Eugene Wang, Nan-Kai Wu, Wei-Chi CHARGE syndrome with de novo frameshift mutation in a patient with total retinal detachment and large choroidal coloboma |
| title | CHARGE syndrome with de novo frameshift mutation in a patient with total retinal detachment and large choroidal coloboma |
| title_full | CHARGE syndrome with de novo frameshift mutation in a patient with total retinal detachment and large choroidal coloboma |
| title_fullStr | CHARGE syndrome with de novo frameshift mutation in a patient with total retinal detachment and large choroidal coloboma |
| title_full_unstemmed | CHARGE syndrome with de novo frameshift mutation in a patient with total retinal detachment and large choroidal coloboma |
| title_short | CHARGE syndrome with de novo frameshift mutation in a patient with total retinal detachment and large choroidal coloboma |
| title_sort | charge syndrome with de novo frameshift mutation in a patient with total retinal detachment and large choroidal coloboma |
| topic | Image |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8859801/ https://www.ncbi.nlm.nih.gov/pubmed/35243138 http://dx.doi.org/10.1016/j.ajoc.2022.101352 |
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