Fig. 4
From: Broadening the phenotype of the TWNK gene associated Perrault syndrome
a Sanger traces of the identified mutations b pedigree information with segregation information. The mother is heterozygous for c.1196A > G, the father is heterozygous for c.1358A > G, and one female sibling is heterozygous for c.1196A > G, the other healthy sibling does not carry any of the examined mutations