Epidermolysis bullosa simplex with mottled pigmentation resulting from a recurrent mutation in KRT14.
Harel
Avikam
A
Pediatric Dermatology Unit, Dana's Children's Hospital, Sourasky Medical Center, Tel-Aviv, Haifa, Israel.
Bergman
Reuven
R
Indelman
Margarita
M
Sprecher
Eli
E
D000596:Amino Acids / Q000032:analysis; D001768:Blister / Q000473:pathology; D002648:Child; D004247:DNA / Q000032:analysis / Q000235:genetics; D016110:Epidermolysis Bullosa Simplex / Q000235:genetics* / Q000473:pathology; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D053547:Keratin-14; D007633:Keratins / Q000737:chemistry / Q000235:genetics*; D007645:Keratoderma, Palmoplantar / Q000235:genetics / Q000473:pathology; D020125:Mutation, Missense / Q000235:genetics*; D010859:Pigmentation Disorders / Q000235:genetics* / Q000473:pathology; D012008:Recurrence; D012867:Skin / Q000473:pathology
D000596:Amino Acids; C507540:KRT14 protein, human; D053547:Keratin-14; D007633:Keratins; D004247:DNA