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.

Detalles Bibliográficos
Autores principales: Hamad, Reem S., Ibrahim, Muntaser E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Letter to the Editor
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

Internet

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

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