SLC52A2 mutations cause SCABD2 phenotype: A second report.
International Journal of Pediatric Otorhinolaryngology(2018)
摘要
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.
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关键词
Cerebellar ataxias,SCABD2,SLC52A2 gene,Novel mutation,Iran
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