P618: Prenatal detection of a novel pathogenic missense variant in COL11A1 leads to a familial diagnosis of Stickler syndrome type II
| Autor: | Timothy O'Brien, Amiee Potter, Sarah McCabe, Arpita Kulkarni, Sue Richards, Stephen Moore |
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| Jazyk: | angličtina |
| Rok vydání: | 2023 |
| Předmět: | |
| Zdroj: | Genetics in Medicine Open, Vol 1, Iss 1, Pp 100674- (2023) |
| Druh dokumentu: | article |
| ISSN: | 2949-7744 |
| DOI: | 10.1016/j.gimo.2023.100674 |
| Databáze: | Directory of Open Access Journals |
| Externí odkaz: |
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