Identified novel heterozygous HTRA1 pathogenic variants in Chinese patients with HTRA1-associated dominant cerebral small vessel disease
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DOI: 10.3389/fgene.2022.909131
Abstract: Background: Homozygous and compound heterozygous mutations in HTRA1 cause cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL). Recently, heterozygous pathogenic variants in HTRA1 were described in patients with autosomal dominant cerebral small vessel… read more here.
Keywords: pathogenic variants; heterozygous htra1; dominant cerebral; cerebral small ... See more keywords