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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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Ital J Pediatr
Egile Nagusiak: 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
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: BioMed Central 2015
Gaiak:
Case Report
Sarrera elektronikoa: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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