Article
FANCA c.3624C>T (p.Ser1208=) is a hypomorphic splice variant associated with delayed onset of Fanconi anemia.
Blood advances - 27 Feb 2024
Ramanagoudr-Bhojappa Ramanagouda, Tryon Rebecca, Lach Francis P, Donovan Frank X, Maxwell Rochelle, Rosenberg Allana, MacMillan Margaret L, Wagner John E, Auerbach Arleen D, Smogorzewska Agata, Chandrasekharappa Settara C
Abstract excerpt
ABSTRACT: Fanconi anemia (FA) is a hereditary, DNA repair deficiency disorder caused by pathogenic variants in any 1 of 22 known genes (FANCA-FANCW). Variants in FANCA account for nearly two-thirds of all patients with FA. Clinical presentation of FA can be heterogeneous and include congenital abnormalities, progressive bone marrow failure, and predisposition to cancer. Here, we describe a relatively mild disease...
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