Figure 1. Family in this study.

(A) Pedigree with genotypes of participants who underwent genetic analyses (crossbar above each individual). Asterisks show the clinical features evaluated. Proband is indicated by the capital letter P with an arrow. Square symbols, males; circle symbols, females; filled symbols on the right and left indicate hearing loss and skin abnormalities, respectively. (B) Partial electropherogram showing the heterozygous p.Val84Met variant. 

Image Credits: Kosuke Hashimoto and Hideki Mutai.