research Recessive Mutation in FAM83G Associated with Palmoplantar Keratoderma and Exuberant Scalp Hair
In this study, researchers identified a novel homozygous variant in the FAM83G gene responsible for autosomal recessively inherited palmoplantar keratoderma with curly hair in a consanguineous Pakistani family, suggesting FAM83G plays a crucial role in skin and hair homeostasis.