De novo variants cause complex symptoms in HSP-ATL1 (SPG3A) and uncover genotype-phenotype correlations.
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DOI: 10.1093/hmg/ddac182
Abstract: Pathogenic variants in ATL1 are a known cause of autosomal-dominantly inherited hereditary spastic paraplegia (HSP-ATL1, SPG3A) with a predominantly 'pure' HSP phenotype. Although a relatively large number of patients have been reported, no genotype-phenotype correlations… read more here.
Keywords: phenotype correlations; phenotype; novo variants; hsp atl1 ... See more keywords