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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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| Publié dans: | J Med Life |
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| Auteurs principaux: | , , , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Carol Davila University Press
2018
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6418328/ https://ncbi.nlm.nih.gov/pubmed/30894892 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.25122/jml-2018-0076 |
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