P804: Prenatal diagnosis of atypical Holt-Oram syndrome caused by a novel inherited intragenic TBX5 duplication: A rare mechanism with variable expressivity
| Autor: | Michael Mackley, Rachel Silver, Nicholas Watkins, Elena Greenfeld, Sarah Redmond, Hui Jue Zhang, Maian Roifman, David Chitayat |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2024 |
| Předmět: | |
| Zdroj: | Genetics in Medicine Open, Vol 2, Iss , Pp 101712- (2024) |
| Druh dokumentu: | article |
| ISSN: | 2949-7744 |
| DOI: | 10.1016/j.gimo.2024.101712 |
| Databáze: | Directory of Open Access Journals |
| Externí odkaz: |
|