Article
Association of clinical severity with FANCB variant type in Fanconi anemia.
Blood - 30 Apr 2020
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
Abstract excerpt
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. Those with FANCB deletion or truncation demonstrate earlier-than-average onset of bone marrow failure and more severe...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.