KRT5 and KRT14 Mutations in Epidermolysis Bullosa Simplex with Phenotypic Heterogeneity, and Evidence of Semidominant Inheritance in a Multiplex Family.
Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran; Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
Hassan
H
Vahidnezhad
Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
Leila
L
Youssefian
Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
Amir Hossein
AH
Saeidian
Skin Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Nikoo
N
Mozafari
Skin Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Mohammadreza
M
Barzegar
Department of Dermatology, Tehran University of Medical Sciences, Tehran, Iran.
Soheila
S
Sotoudeh
Autoimmune Bullous Diseases Research Center, Department of Dermatology, Tehran University of Medical Sciences, Tehran, Iran.
Maryam
M
Daneshpazhooh
Pediatrics Center of Excellence Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
Anna
A
Isaian
Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran.
Sirous
S
Zeinali
Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, Pennsylvania, USA. Electronic address: Jouni.Uitto@Jefferson.edu.
Jouni
J
Uitto
D001706:Biopsy; D015331:Cohort Studies; D016110:Epidermolysis Bullosa Simplex / Q000235:genetics* / Q000473:pathology; D005260:Female; D018740:Genetic Heterogeneity; D006801:Humans; D040582:Inheritance Patterns; D007492:Iran; D053547:Keratin-14 / Q000235:genetics*; D053555:Keratin-5 / Q000235:genetics*; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D012867:Skin / Q000473:pathology; D000073336:Whole Genome Sequencing
C507540:KRT14 protein, human; C503940:KRT5 protein, human; D053547:Keratin-14; D053555:Keratin-5