Skin Abnormalities

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  Subject Areas on Research

  • A mouse model for hereditary hemorrhagic telangiectasia (HHT) type 2. 
  • A piggyBac insertion disrupts Foxl2 expression that mimics BPES syndrome in mice. 
  • Aplasia cutis congenita and arteriovenous fistula. Case report and review. 
  • Case Series of Patients With Hereditary Benign Intraepithelial Dyskeratosis. 
  • Cyclic Alopecia and Abnormal Epidermal Cornification in Zdhhc13-Deficient Mice Reveal the Importance of Palmitoylation in Hair and Skin Differentiation. 
  • Growth-Friendly Spine Surgery in Escobar Syndrome. 
  • Loss of the Ubiquitin-conjugating Enzyme UBE2W Results in Susceptibility to Early Postnatal Lethality and Defects in Skin, Immune, and Male Reproductive Systems. 
  • Microphthalmia, Dermal Aplasia, and Sclerocornea Syndrome: Endoscopic Cyclophotocoagulation in the Management of Congenital Glaucoma. 
  • Skin abnormalities in mice transgenic for plasminogen activator inhibitor 1: implications for the regulation of desquamation and follicular neogenesis by plasminogen activator enzymes. 
  • The cardiofaciocutaneous syndrome.