Cargando…
CMMRD caused by PMS1 mutation in a sudanese consanguineous family
A consanguineous family of three siblings presented with different early onset pediatric cancers. Whole-exome sequencing of parents DNA revealed a deleterious frameshift mutation in hPMS1 the first to be reported in association to a CMMRD phenotype.
| Autores principales: | , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2022
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9013156/ https://www.ncbi.nlm.nih.gov/pubmed/35428304 http://dx.doi.org/10.1186/s13053-022-00222-4 |