Cargando…
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...
| Autores principales: | , , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Carol Davila University Press
2018
|
| Materias: | |
| 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 |