A case report and literature review of Fanconi Anemia (FA) diagnosed by genetic testing

Fanconi anemia (FA) is a genetically heterogeneous rare autosomal recessive disorder characterized by congenital malformations, hematological problems and predisposition to malignancies. The genes that have been found to be mutated in FA patients are called FANC. To date 16 distinct FANC genes have...

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Detalhes bibliográficos
Publicado no:Ital J Pediatr
Main Authors: Solomon, Ponnumony John, Margaret, Priya, Rajendran, Ramya, Ramalingam, Revathy, Menezes, Godfred A, Shirley, Alph S, Lee, Seung Jun, Seong, Moon-Woo, Park, Sung Sup, Seol, Dodam, Seo, Soo Hyun
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2015
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4438458/
https://ncbi.nlm.nih.gov/pubmed/25953249
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13052-015-0142-6
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