Fig. 1From: Novel TECPR2 variant in two cases of hereditary sensory and autonomic neuropathy type 9: insights from genetic characterization and comprehensive literature reviewFamilial pedigree and electropherograms of case 1 and her parent (B). Sequencing analysis of case 1 (IV-2) identified a homozygous variant c.1568del (p.Ser523PhefsTer12) in the TECPR2. Segregation analysis revealed parent to be heterozygousBack to article page
