Prenatal diagnosis of 7p22.1 microdeletion including the ACTB gene: Baraitser-Winter cerebrofrontofacial syndrome
Microdeletions in chromosomal region 7p22.1, which include the ACTB gene and may lead to the onset of Baraitser Winter Cerebrofrontofacial Syndrome (BCFF), have a very low incidence, and its prenatal diagnosis is even more uncommon.
Authors
- Natalia Torres-Valencia
Publication Details
- Journal
- Journal of Clinical Images and Medical Case Reports
- Published
- 2025-01-09
- DOI
- https://doi.org/10.52768/2766-7820/3417
- Primary Topic
- Craniofacial Disorders and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.00