Novel FANCA mutation in the first fully-diagnosed patient with Fanconi anemia in Polish population – case report

BACKGROUND: Fanconi anemia is a rare genetic disorder caused by mutations in genes which protein products are involved in replication, cell cycle control and DNA repair. It is characterized by congenital malformations, bone marrow failure, and high risk of cancer. The diagnosis is based on morpholog...

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Detalles Bibliográficos
Autores principales: Repczynska, Anna, Pastorczak, Agata, Babol-Pokora, Katarzyna, Skalska-Sadowska, Jolanta, Drozniewska, Malgorzata, Mlynarski, Wojciech, Haus, Olga
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7418427/
https://www.ncbi.nlm.nih.gov/pubmed/32793304
http://dx.doi.org/10.1186/s13039-020-00503-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7418427/
https://www.ncbi.nlm.nih.gov/pubmed/32793304
http://dx.doi.org/10.1186/s13039-020-00503-4

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