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

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...

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Detalles Bibliográficos
Autores principales: Modesto, Adriana, Ventura, Catherine, Deeley, Kathleen, Studen-Pavlovich, Deborah, Vieira, Alexandre R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Tabriz University of Medical Sciences 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5666211/
https://www.ncbi.nlm.nih.gov/pubmed/29184627
http://dx.doi.org/10.15171/joddd.2017.025

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