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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Vydáno v:Blood
Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society of Hematology 2020
Témata:
Red Cells, Iron, and Erythropoiesis
On-line přístup: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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