Article
[Combined Preimplantation Genetic Testing for Aneuploidy and Monogenic Disease in a Mexican Family Affected by X-linked Hypohidrotic Ectodermal Dysplasia].
Revista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion - 1 Jan 2018
Piña-Aguilar Raul Eduardo, González-Ortega Claudia, Calull-Bago Anna, Lanuza-López María Cristina, Cancino-Villarreal Patricia, Gutiérrez-Gamiño Ana Mireya, Gutiérrez-Gutiérrez Antonio Martin
Abstract excerpt
Background: Hypohidrotic ectodermal dysplasia (HED) is a genetic skin condition presenting as hypohidrosis, hypodontia, and hypotrichosis, resulting in an important burden for affected families. The most common form of HED has an X-linked inheritance and female carriers have the option of prenatal or preimplantation genetic testing (PGT) to avoid transmission of the disease. A combined PGT for a mutation in EDA...
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