Prenatal Genetic Testing for Dopa-Responsive Dystonia – Clinical Judgment in the Context of Next Generation Sequencing

We present a family in which the first child was diagnosed with dopa-responsive dystonia based on biochemical findings only. Dopa-responsive dystonia is a severe heterogeneous genetic disease. The possibly involved genes are GCH1 and TH. In their second pregnancy, the parents came for genetic counse...

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Detalles Bibliográficos
Autores principales: Nedelea, Florina, Veduta, Alina, Duta, Simona, Vayna, Ana-Maria, Panaitescu, Anca, Peltecu, Gheorghe, Duba, Hans-Christoph
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Carol Davila University Press 2018
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6418328/
https://www.ncbi.nlm.nih.gov/pubmed/30894892
http://dx.doi.org/10.25122/jml-2018-0076

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6418328/
https://www.ncbi.nlm.nih.gov/pubmed/30894892
http://dx.doi.org/10.25122/jml-2018-0076

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