Association of clinical severity with FANCB variant type in Fanconi anemia

Fanconi anemia (FA) is the most common genetic cause of bone marrow failure and is caused by inherited pathogenic variants in any of 22 genes. Of these, only FANCB is X-linked. We describe a cohort of 19 children with FANCB variants, from 16 families of the International Fanconi Anemia Registry. Tho...

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Detalhes bibliográficos
Publicado no:Blood
Main Authors: Jung, Moonjung, Ramanagoudr-Bhojappa, Ramanagouda, van Twest, Sylvie, Rosti, Rasim Ozgur, Murphy, Vincent, Tan, Winnie, Donovan, Frank X., Lach, Francis P., Kimble, Danielle C., Jiang, Caroline S., Vaughan, Roger, Mehta, Parinda A., Pierri, Filomena, Dufour, Carlo, Auerbach, Arleen D., Deans, Andrew J., Smogorzewska, Agata, Chandrasekharappa, Settara C.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Hematology 2020
Assuntos:
Red Cells, Iron, and Erythropoiesis
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7193183/
https://ncbi.nlm.nih.gov/pubmed/32106311
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood.2019003249
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