Compound heterozygosity for novel KRT85 variants associated with pure hair and nail ectodermal dysplasia.

Ectodermal dysplasias are a large family of congenital disorders resulting in developmental defects of at least two structures derived from ectodermal embryologic structure (hair, nails, skin, sweat glands, teeth, eyes). A novel mutation in homeobox DNA binding domain of HOXC13 gene underlies pure hair and nail ectodermal dysplasia (ECTD9) in a Pakistani family. [Extracted from the article]