PRJNA859896
Exome sequencing of patient affected with woolly hair and dental anomalies
In this study, we aimed to identify novel gene variant(s) associated with autosomal recessive woolly hair (ARWH) where affected individuals showed dental anomalies. Whole exome sequencing (WES) followed by Sanger sequencing revealed a previously unreported missense variant c.266G>A, p.(Arg89His) in KRT25 gene in the affected members.