Genetic Analysis Strategy for Diagnosing Congenital Heart Disease
The patient selection and prior clinical evaluation may explain our high detection rate, as much as the karyotype and fluorescent in situ hybridization normal results used for screening, combined with using two MLPA kits for detection.
Authors
- Rafaella Mergener (ORCID: https://orcid.org/0000-0002-7814-2936)
- Marcela Rodrigues Nunes (ORCID: https://orcid.org/0000-0002-5808-8848)
- Paulo Ricardo Gazzola Zen (ORCID: https://orcid.org/0000-0002-7628-4877)
- Natasha Malgarezi de Moraes (ORCID: https://orcid.org/0000-0002-5770-3204)
- Bruna Lixinski Diniz (ORCID: https://orcid.org/0000-0003-1448-0298)
- Ana Kalise Böttcher (ORCID: https://orcid.org/0009-0009-4654-8534)
Institutions
- Universidade Federal de Ciências da Saúde de Porto Alegre (BR)
Publication Details
- Journal
- Molecular Syndromology
- Published
- 2025-07-14
- DOI
- https://doi.org/10.1159/000547412
- Primary Topic
- Congenital heart defects research
- Type
- article
- Field-Weighted Citation Impact
- 0.00