KRT5 and KRT14 Mutations in Epidermolysis Bullosa Simplex with Phenotypic Heterogeneity, and Evidence of Semidominant Inheritance in a Multiplex Family

  • J Invest Dermatol. 2016 Sep;136(9):1897-1901. doi: 10.1016/j.jid.2016.05.106.
Hassan Vahidnezhad  1 ,  Leila Youssefian  2 ,  Amir Hossein Saeidian  2 ,  Nikoo Mozafari  3 ,  Mohammadreza Barzegar  3 ,  Soheila Sotoudeh  4 ,  Maryam Daneshpazhooh  5 ,  Anna Isaian  6 ,  Sirous Zeinali  7 ,  Jouni Uitto  8
Affiliations
  • 1. Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran; Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
  • 2. Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
  • 3. Skin Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
  • 4. Department of Dermatology, Tehran University of Medical Sciences, Tehran, Iran.
  • 5. Autoimmune Bullous Diseases Research Center, Department of Dermatology, Tehran University of Medical Sciences, Tehran, Iran.
  • 6. Pediatrics Center of Excellence Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
  • 7. Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran.
  • 8. Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, Pennsylvania, USA. Electronic address: [email protected].
PMID: 27283507 DOI: 10.1016/j.jid.2016.05.106