P284: Compound heterozygosity for loss-of-function variants in GDF1 provides a molecular diagnosis in a patient with heterotaxy syndrome
| Autor: | Vittoria Rossi, Xi Luo, Kristin Cardiel Nunez, Ruiyang Yi, Elizabeth Mizerik, Lauren Westerfield, Seema Lalani, Mir Reza Bekheirnia |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2023 |
| Předmět: | |
| Zdroj: | Genetics in Medicine Open, Vol 1, Iss 1, Pp 100312- (2023) |
| Druh dokumentu: | article |
| ISSN: | 2949-7744 |
| DOI: | 10.1016/j.gimo.2023.100312 |
| Databáze: | Directory of Open Access Journals |
| Externí odkaz: |
|