Medical sequencing of de novo ectodermal dysplasia in identical twins and evaluation of the potential eligibility for recombinant EDA therapy

• Hoofdauteurs: Adriana Modesto (Auteur), Catherine Ventura (Auteur), Kathleen Deeley (Auteur), Deborah Studen-Pavlovich (Auteur), Alexandre Rezende Vieira (Auteur)
• Formaat: Boek
• Gepubliceerd in: Tabriz University of Medical Sciences, 2017-09-01T00:00:00Z.
• Onderwerpen: article
• Online toegang: Connect to this object online.

The purpose of this study was to test two 8-year-old identical twins with ectodermal dysplasia (ED) and their unaffected parents for the presence of mutations in the EDA gene with the hypothesis that they might be carrying a de novo mutation in EDA and potentially eligible for recombinant EDA therap...