Article
Pitfalls in Genetic Diagnostics: Why Phenotyping is Essential.
Neuropediatrics - 1 Aug 2021
Gburek-Augustat Janina, Schoene-Bake Jan-Christoph, Bültmann Eva, Haack Tobias, Buchert Rebecca, Synofzik Matthis, Biskup Saskia, Feuerhake Friedrich, Sorge Ina, Hartmann Hans
Abstract excerpt
New genetic testing technologies have revolutionized medicine within the past years. It is foreseeable that the development will continue with the introduction of new techniques. Nevertheless, despite improved technology, an exact clinical description of the phenotype is still necessary and it is important to critically question findings, both before initiating genetic testing and when interpreting the results....
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