Mutations in the Keratin 85 (KRT85/hHb5) Gene Underlie Pure Hair and Nail Ectodermal Dysplasia

October 2009 in “ The journal of investigative dermatology/Journal of investigative dermatology ”

Yutaka Shimomura, Muhammad Wajid, Mazen Kurban, Nobuyuki Sato, Angela M. Christiano

KRT85 keratin 85 hHb5 pure hair and nail ectodermal dysplasia PHNED hypotrichosis nail dystrophy keratinization

Studysummary In this study, researchers identified two distinct homozygous mutations in the KRT85 gene among consanguineous Pakistani families with pure hair and nail ectodermal dysplasia, highlighting variations in severity and potential impacts on the K85 protein function.

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