Ontology highlight
ABSTRACT:
SUBMITTER: van der Kaay DCM
PROVIDER: S-EPMC9578069 | biostudies-literature | 2022 Nov
REPOSITORIES: biostudies-literature
van der Kaay Danielle Christine Maria DCM Rochtus Anne A Binder Gerhard G Kurth Ingo I Prawitt Dirk D Netchine Irène I Johannsson Gudmundur G Hokken-Koelega Anita C S ACS Elbracht Miriam M Eggermann Thomas T
Endocrine connections 20221010 11
The implementation of high-throughput and deep sequencing methods in routine genetic diagnostics has significantly improved the diagnostic yield in patient cohorts with growth disturbances and becomes increasingly important as the prerequisite of personalized medicine. They provide considerable chances to identify even rare and unexpected situations; nevertheless, we must be aware of their limitations. A simple genetic test in the beginning of a testing cascade might also help to identify the ge ...[more]