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

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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Bibliographic Details
Main Authors: Orna Steinberg-Shemer, Tracie A. Goldberg, Joanne Yacobovich, Carina Levin, Ariel Koren, Shoshana Revel-Vilk, Tal Ben-Ami, Amir A. Kuperman, Vered Shkalim Zemer, Amos Toren, Joseph Kapelushnik, Ayelet Ben-Barak, Hagit Miskin, Tanya Krasnov, Sharon Noy-Lotan, Orly Dgany, Hannah Tamary
Format: Article
Language:English
Published: Ferrata Storti Foundation 2020-07-01
Series:Haematologica
Online Access:https://haematologica.org/article/view/9934

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https://haematologica.org/article/view/9934

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