Pathology
germline mutation in epidermolytic hyperkeratosis (EHK) (MIM.113800)
References
Yang JM, Nam K, Kim SW, Jung SY, Min HG, Yeo UC, Park KB, Lee JH, Suhr KB, Park JK, Lee ES. Arginine in the beginning of the 1A rod domain of the keratin 10 gene is the hot spot for the mutation in epidermolytic hyperkeratosis. J Dermatol Sci. 1999 Feb;19(2):126-33. PMID: 10098704