CMMRD caused by PMS1 mutation in a sudanese consanguineous family
oleh: Reem S. Hamad, Muntaser E. Ibrahim
| Format: | Article |
|---|---|
| Diterbitkan: | BMC 2022-04-01 |
Deskripsi
Abstract 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.