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

• Main Authors: Adriana Modesto (Author), Catherine Ventura (Author), Kathleen Deeley (Author), Deborah Studen-Pavlovich (Author), Alexandre Rezende Vieira (Author)
• Format: Book
• Published: Tabriz University of Medical Sciences, 2017-09-01T00:00:00Z.
• Subjects: article
• Online Access: 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...