A novel frame-shift deletion in FANCF gene causing autosomal recessive Fanconi anemia: a case report

• Autori principali: Soheila Zareifar (Autore), Hassan Dastsooz (Autore), Mahdi Shahriari (Autore), Mohammad Ali Faghihi (Autore), Golsa Shekarkhar (Autore), Mohammadreza Bordbar (Autore), Omid Reza Zekavat (Autore), Nader Shakibazad (Autore)
• Natura: Libro
• Pubblicazione: BMC, 2019-07-01T00:00:00Z.
• Soggetti: article
• Accesso online: Connect to this object online.

Abstract Background Fanconi anemia (FA) is a heterogeneous genetic disorder characterized by congenital anomalies, early-onset bone marrow failure, and a high predisposition to cancers. Up to know, different genes involved in the DNA repair pathway, mainly FANCA genes, have been identified to be aff...