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

• Päätekijät: Adriana Modesto (Tekijä), Catherine Ventura (Tekijä), Kathleen Deeley (Tekijä), Deborah Studen-Pavlovich (Tekijä), Alexandre Rezende Vieira (Tekijä)
• Aineistotyyppi: Kirja
• Julkaistu: Tabriz University of Medical Sciences, 2017-09-01T00:00:00Z.
• Aiheet: article
• Linkit: 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...