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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4438458/
https://www.ncbi.nlm.nih.gov/pubmed/25953249
http://dx.doi.org/10.1186/s13052-015-0142-6

Ejemplares similares

Ejemplares similares