Characterization and genotype-phenotype correlation of patients with Fanconi anemia in a multi-ethnic population

Fanconi anemia (FA), an inherited bone marrow failure (BMF) syndrome, caused by mutations in DNA repair genes, is characterized by congenital anomalies, aplastic anemia, high risk of malignancies and extreme sensitivity to alkylating agents. We aimed to study the clinical presentation, molecular dia...

Descripción completa

Detalles Bibliográficos
Autores principales: Steinberg-Shemer, Orna, Goldberg, Tracie A., Yacobovich, Joanne, Levin, Carina, Koren, Ariel, Revel-Vilk, Shoshana, Ben-Ami, Tal, Kuperman, Amir A., Zemer, Vered Shkalim, Toren, Amos, Kapelushnik, Joseph, Ben-Barak, Ayelet, Miskin, Hagit, Krasnov, Tanya, Noy-Lotan, Sharon, Dgany, Orly, Tamary, Hannah
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Ferrata Storti Foundation 2020
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7327661/
https://www.ncbi.nlm.nih.gov/pubmed/31558676
http://dx.doi.org/10.3324/haematol.2019.222877

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7327661/
https://www.ncbi.nlm.nih.gov/pubmed/31558676
http://dx.doi.org/10.3324/haematol.2019.222877

Ejemplares similares