Primary disorders of keratinization (DOK): Mutations and novel gene discovery

Principal Investigator:

Keith Choate, MD, PhD – Yale University

Overview:

This study is using novel techniques to examine genetic mutations related to rare disorders of keratinization. Discoveries made are likely to impact the development of targeted therapies in future.

This study is funded by an R01 grant from the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) at the National Institutes of Health.

Status:

IRB approved and collecting data. Seeking patient referrals.