Article
The causes of Fanconi anemia in South Asia and the Middle East: A case series and review of the literature.
Molecular genetics & genomic medicine - 1 Jul 2021
Thompson Ashley S, Saba Nusrat, McReynolds Lisa J, Munir Saeeda, Ahmed Parvez, Sajjad Sumaira, Jones Kristine, Yeager Meredith, Donovan Frank X, Chandrasekharappa Settara C, Alter Blanche P, Savage Sharon A, Rehman Sadia
Abstract excerpt
BACKGROUND: Fanconi anemia (FA) is an inherited bone marrow failure syndrome associated with characteristic dysmorphology primarily caused by biallelic pathogenic germline variants in any of 22 different DNA repair genes. There are limited data on the specific molecular causes of FA in different ethnic groups. METHODS: We performed exome sequencing and copy number variant analyses on 19 patients with FA from 17...
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