Recurrent NUS1 canonical splice donor site mutation in two unrelated individuals with epilepsy, myoclonus, ataxia and scoliosis - a case report
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DOI: 10.1186/s12883-019-1489-x
Abstract: BackgroundWe encountered two unrelated individuals suffering from neurological disorders, including epilepsy and scoliosis.Case presentationWhole-exome sequencing identified the same recurrent, de novo, pathogenic variant in NUS1 [NM_138459.4:c.691 + 1C > A] in both individuals. This variant is located in the… read more here.
Keywords: unrelated individuals; scoliosis case; splice donor; scoliosis ... See more keywords