Article

Clinical severity in Fanconi anemia correlates with residual function of FANCB missense variants

2019-09-18

Abstract excerpt

<h4>ABSTRACT</h4> 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 (IFAR). Those with FANCB deletion or truncation demonstrate earlier than average onset of bone mar...

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Literature Corpus work: d3cf2271-a57d-5611-9845-df6515650ab2
DOI: 10.1101/772574

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