Cargando…
Dual BRCA1 and BRCA2 pathogenic variants in an adolescent with syndromic intellectual disability
Pathogenic variants in the BRCA1 and BRCA2 genes are associated with increased risk for breast and ovarian cancers. Concurrent mutations in both genes in the same individual are rare but pose specific challenges when identified, usually through multigene panel testing or infrequently from a genome‐w...
| Autores principales: | , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2022
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9360338/ https://www.ncbi.nlm.nih.gov/pubmed/35957765 http://dx.doi.org/10.1002/ccr3.6202 |