Exome findings in children with short stature evaluated by growth hormone stimulation testing
The limited correlation between GHST results and genetic findings highlights the diagnostic value of ES. Integrating genetic testing into the evaluation of short stature can enhance etiological understanding and support personalized management, particularly in ISS cases and decisions regarding GH therapy.
Authors
- Claudia Boettcher (ORCID: https://orcid.org/0000-0001-5494-2616)
- Marco Janner (ORCID: https://orcid.org/0000-0001-9081-577X)
- Matthias Zürcher
- Christoph Saner (ORCID: https://orcid.org/0000-0003-1380-0341)
- Tanja Zingg (ORCID: https://orcid.org/0000-0002-9084-4025)
- Christa E Flück
- Christiane Zweier
Institutions
- University of Bern (CH)
- Bern University of Applied Sciences (CH)
- University Hospital of Bern (CH)
- Endo Pharmaceuticals (United States) (US)
- BioCruces Health research Institute (ES)
- Centro de Investigación Biomédica en Red Diabetes y Enfermedades Metabólicas Asociadas (ES)
- Instituto de Investigación de Enfermedades Raras (ES)
Publication Details
- Journal
- European Journal of Endocrinology
- Published
- 2026-02-01
- DOI
- https://doi.org/10.1093/ejendo/lvag038
- Primary Topic
- Growth Hormone and Insulin-like Growth Factors
- Type
- article
- Field-Weighted Citation Impact
- 0.00