Expanding the clinical and neuroimaging features of NKX6-2-related hereditary spastic ataxia type 8.
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DOI: 10.1016/j.ejmg.2020.103868
Abstract: Pathogenic variants in NKX6-2 gene causing autosomal recessive spastic ataxia type 8 with hypomyelinating leukodystrophy have been reported in few families around the world. In this study, we performed Whole Exome Sequencing and identified a… read more here.
Keywords: ataxia type; spastic ataxia; expanding clinical; nkx6 related ... See more keywords