Generalized epidermolytic hyperkeratosis in two unrelated children from parents with localized linear form, and prenatal diagnosis.
Chassaing
Nicolas
N
Kanitakis
Jean
J
Sportich
Stéphanie
S
Cordier-Alex
Marie-Pierre
MP
Titeux
Matthias
M
Calvas
Patrick
P
Claudy
Alain
A
Berbis
P
P
Hovnanian
Alain
A
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
C491616:KRT1 protein, human; C507493:KRT10 protein, human; D053556:Keratin-1; D007532:Isoleucine; D053550:Keratin-10; D018698:Glutamic Acid; D010649:Phenylalanine; D008239:Lysine