title: Generalized epidermolytic hyperkeratosis in two unrelated children from parents with localized linear form, and prenatal diagnosis.
authors.forename: Nicolas
authors.initials: N
authors.lastname: Chassaing
authors.forename: Jean
authors.initials: J
authors.lastname: Kanitakis
authors.forename: Stéphanie
authors.initials: S
authors.lastname: Sportich
authors.forename: Marie-Pierre
authors.initials: MP
authors.lastname: Cordier-Alex
authors.forename: Matthias
authors.initials: M
authors.lastname: Titeux
authors.forename: Patrick
authors.initials: P
authors.lastname: Calvas
authors.forename: Alain
authors.initials: A
authors.lastname: Claudy
authors.forename: P
authors.initials: P
authors.lastname: Berbis
authors.forename: Alain
authors.initials: A
authors.lastname: Hovnanian
mesh_terms: D000328:Adult; D004252:DNA Mutational Analysis; D005260:Female; D018698:Glutamic Acid; D006801:Humans; D017488:Hyperkeratosis, Epidermolytic / Q000175:diagnosis* / Q000235:genetics*; D007231:Infant, Newborn; D007532:Isoleucine; D053556:Keratin-1 / Q000235:genetics; D053550:Keratin-10 / Q000235:genetics; D008239:Lysine; D009154:Mutation; D010649:Phenylalanine; D011296:Prenatal Diagnosis; D012867:Skin / Q000473:pathology
chemical_list: C491616:KRT1 protein, human; C507493:KRT10 protein, human; D053556:Keratin-1; D007532:Isoleucine; D053550:Keratin-10; D018698:Glutamic Acid; D010649:Phenylalanine; D008239:Lysine