title: Mild phenotype of epidermolytic hyperkeratosis mimicking ichthyosis bullosa of Siemens is related to specific mutation in 2B domain of KRT1.
authors.forename: Jae Yong
authors.initials: JY
authors.lastname: Sung
authors.forename: Se-Woong
authors.initials: SW
authors.lastname: Oh
authors.forename: Song Ee
authors.initials: SE
authors.lastname: Kim
authors.forename: Soo-Chan
authors.initials: SC
authors.lastname: Kim
mesh_terms: D000293:Adolescent; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D020022:Genetic Predisposition to Disease; D006801:Humans; D017488:Hyperkeratosis, Epidermolytic / Q000235:genetics* / Q000473:pathology; D053560:Ichthyosis Bullosa of Siemens / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D053556:Keratin-1 / Q000235:genetics*; D008297:Male; D009154:Mutation; D010641:Phenotype; D011237:Predictive Value of Tests; D017434:Protein Structure, Tertiary; D012720:Severity of Illness Index; D012867:Skin / Q000473:pathology
chemical_list: C491616:KRT1 protein, human; D053556:Keratin-1