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

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

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...

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Bibliographic Details
Main Authors: Soheila Zareifar, Hassan Dastsooz, Mahdi Shahriari, Mohammad Ali Faghihi, Golsa Shekarkhar, Mohammadreza Bordbar, Omid Reza Zekavat, Nader Shakibazad
Format: Article
Language:English
Published: BMC 2019-07-01
Series:BMC Medical Genetics
Subjects:
FANCF
Novel mutation
NGS
Autosomal recessive Fanconi Anemia
Online Access:http://link.springer.com/article/10.1186/s12881-019-0855-2

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http://link.springer.com/article/10.1186/s12881-019-0855-2

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