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...

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Pubblicato in:Haematologica
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Ferrata Storti Foundation 2020
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Articles
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7327661/
https://ncbi.nlm.nih.gov/pubmed/31558676
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3324/haematol.2019.222877
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