Article
Profiling Fanconi Anemia Gene Mutations among Iranian Patients.
Archives of Iranian medicine - 1 Apr 2016
Esmail Nia Giti, Fadaee Mahsa, Royer Robert, Najmabadi Hossein, Akbari Mohammad R
Abstract excerpt
BACKGROUND: Fanconi anemia (FA) is a rare genetic syndrome characterized by developmental defects, bone marrow failure, and a high cancer risk. FA is usually inherited as an autosomal recessive condition. This disease is genetically heterogeneous and mutations in 16 different genes have been identified in FA patients to date. An accurate diagnosis needs detection of pathogenic variations in the FA genes along...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
