Final Exon Frameshift Biallelic PTPN23 Variants Are Associated with Microcephalic Complex Hereditary Spastic Paraplegia
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DOI: 10.3390/brainsci11050614
Abstract: The hereditary spastic paraplegias (HSPs) are a large clinically heterogeneous group of genetic disorders classified as ‘pure’ when the cardinal feature of progressive lower limb spasticity and weakness occurs in isolation and ‘complex’ when associated… read more here.
Keywords: ptpn23; ptpn23 variants; frameshift; hereditary spastic ... See more keywords