Five Novel Deleterious Variants in FANCA, FANCF and FANCG Identified in Pakistani Fanconi Anemia Families Using Exome Sequencing
Abstract:Background Fanconi anemia (FA), a cancer-prone inherited bone marrow failure syndrome associated with characteristic dysmorphology is primarily caused by autosomal recessive inheritance of pathogenic germline variants in any of 22 different DNA repair genes. Pathogenic variants in FANCA are the most frequent cause, followed by FANCC and FANCG. There are limited data on the specific molecular causes of FA in different ethnic groups. Methods We evaluated 19 patients with FA undergoing hematopoietic cell transpla… Show more
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