Article
Fanconi-like anemia related to a FANCM mutation.
European journal of medical genetics - 1 Jan 2022
Encarnación J A, Cerezuela P, Español I, García M R, Manso C, De la Fuente I, Garrigós N, Viney A, Minguillon J, Surrallés J
Abstract excerpt
Fanconi anemia is primarily inherited as an autosomal recessive genetic disorder with common delays in diagnosis and challenging treatments. Fanconi anemia patients have a high risk of developing solid tumors, particularly in the head and neck or anogenital regions. The diagnosis of Fanconi anemia is primarily based on the chromosomal breakage but FA gene sequencing is recommended in all patients with a positive...
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