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Epidermolytic hyperkeratosis 1
- ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov EPIDERMOLYTIC HYPERKERATOSIS 1; EHK1 PubMed Chamcheu JC, Siddiqui IA, Syed DN, ... proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis. Cell. 1992 Sep 4;70(5):821-8. ...