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Biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome with atypical brain involvement
| Autores principales: | , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Korean Pediatric Society
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9989718/ https://www.ncbi.nlm.nih.gov/pubmed/36596744 http://dx.doi.org/10.3345/cep.2022.01144 |
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| author | Moon, Byungseung Kim, Minhye Kim, Hye Jin Cho, Jae So Son, Hey Joon Lim, Byung Chan Kim, Ki Joong Chae, Jong Hee Kim, Soo Yeon |
| author_facet | Moon, Byungseung Kim, Minhye Kim, Hye Jin Cho, Jae So Son, Hey Joon Lim, Byung Chan Kim, Ki Joong Chae, Jong Hee Kim, Soo Yeon |
| author_sort | Moon, Byungseung |
| collection | PubMed |
| description | |
| format | Online Article Text |
| id | pubmed-9989718 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2022 |
| publisher | Korean Pediatric Society |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-99897182023-03-08 Biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome with atypical brain involvement Moon, Byungseung Kim, Minhye Kim, Hye Jin Cho, Jae So Son, Hey Joon Lim, Byung Chan Kim, Ki Joong Chae, Jong Hee Kim, Soo Yeon Clin Exp Pediatr Clinical Note Korean Pediatric Society 2022-12-30 /pmc/articles/PMC9989718/ /pubmed/36596744 http://dx.doi.org/10.3345/cep.2022.01144 Text en Copyright © 2023 by The Korean Pediatric Society https://creativecommons.org/licenses/by-nc/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/ (https://creativecommons.org/licenses/by-nc/4.0/) ) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. |
| spellingShingle | Clinical Note Moon, Byungseung Kim, Minhye Kim, Hye Jin Cho, Jae So Son, Hey Joon Lim, Byung Chan Kim, Ki Joong Chae, Jong Hee Kim, Soo Yeon Biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome with atypical brain involvement |
| title | Biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome with atypical brain involvement |
| title_full | Biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome with atypical brain involvement |
| title_fullStr | Biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome with atypical brain involvement |
| title_full_unstemmed | Biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome with atypical brain involvement |
| title_short | Biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome with atypical brain involvement |
| title_sort | biallelic polr3a variants cause wiedemann-rautenstrauch syndrome with atypical brain involvement |
| topic | Clinical Note |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9989718/ https://www.ncbi.nlm.nih.gov/pubmed/36596744 http://dx.doi.org/10.3345/cep.2022.01144 |
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