TY  - JOUR
AU  - Gburek-Augustat, Janina
AU  - Schoene-Bake, Jan-Christoph
AU  - Bültmann, Eva
AU  - Haack, Tobias
AU  - Buchert, Rebecca
AU  - Synofzik, Matthis
AU  - Biskup, Saskia
AU  - Feuerhake, Friedrich
AU  - Sorge, Ina
AU  - Hartmann, Hans
TI  - Pitfalls in Genetic Diagnostics: Why Phenotyping is Essential.
JO  - Neuropediatrics
VL  - 52
IS  - 4
SN  - 1439-1899
CY  - Stuttgart [u.a.]
PB  - Thieme
M1  - DZNE-2021-00860
SP  - 274 - 283
PY  - 2021
AB  - 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. We present four brief case vignettes to point out difficulties associated with correctly interpreting genetic findings.
KW  - Genetic Testing
KW  - Humans
KW  - Phenotype
LB  - PUB:(DE-HGF)16
C6  - pmid:33791999
DO  - DOI:10.1055/s-0041-1726306
UR  - https://pub.dzne.de/record/155692
ER  -