A novel homozygous DST variant causes hereditary sensory and autonomic neuropathy in a Pakistani family
Hum Genome Var. 2025 Nov 18;12(1):25. doi: 10.1038/s41439-025-00330-2. ABSTRACT Hereditary sensory and autonomic neuropathy type 6 (HSAN-VI) is a rare autosomal recessive neurological disorder that …