Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8806449 | International Journal of Pediatric Otorhinolaryngology | 2018 | 5 Pages |
Abstract
Using whole exome sequencing (WES), a novel missense mutation in SLC52A2 gene is reported in a consanguineous Iranian family with progressive severe hearing loss, optic atrophy and ataxia. This is the second report of the genotype-phenotype correlation between this syndrome named spinocerebellar ataxia with blindness and deafness type 2 (SCABD2) and SLC52A2 gene.
Keywords
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Authors
Mojgan Babanejad, Omid Ali Adeli, Nooshin Nikzat, Maryam Beheshtian, Hakimeh Azarafra, Farnaz Sadeghnia, Marzieh Mohseni, Hossein Najmabadi, Kimia Kahrizi,