Clinical Characteristics and Response to Growth Hormone Treatment in 27 Children With Heterozygous <i>NPR2</i> Variants: Real-World Data
The majority of patients with a heterozygous (likely) pathogenic NPR2 variant have mild features suggestive of skeletal dysplasia. We furthermore show that the majority of NPR2 patients have a significant growth response during the first 2 years of GH treatment.
Authors
- Annemieke M. Boot (ORCID: https://orcid.org/0000-0002-2426-3222)
- Hermine A. van Duyvenvoorde (ORCID: https://orcid.org/0000-0003-0451-2065)
- Monique Losekoot (ORCID: https://orcid.org/0000-0002-7272-5137)
- Daniëlle C M van der Kaay (ORCID: https://orcid.org/0000-0001-6408-1717)
- Ardine Reedijk (ORCID: https://orcid.org/0000-0002-0621-9957)
- Judith S. Renes (ORCID: https://orcid.org/0009-0002-6772-0427)
- Christiaan de Bruin (ORCID: https://orcid.org/0000-0003-1478-2261)
- Rutger A. J. Nievelstein (ORCID: https://orcid.org/0000-0002-0484-1486)
- Boudewijn Bakker (ORCID: https://orcid.org/0000-0003-0229-1123)
- Anita Hokken-Koelega (ORCID: https://orcid.org/0000-0002-1384-7628)
- Yvonne Hendriks
- Petra A. van Setten
Institutions
- Albert Schweitzer Hospital (GA)
- University Medical Center Groningen (NL)
- Radboud University Nijmegen (NL)
- University of Groningen (NL)
- Leiden University Medical Center (NL)
- Erasmus MC (NL)
- Radboud University Medical Center (NL)
- University Medical Center Utrecht (NL)
- Albert Schweitzer Ziekenhuis (NL)
- Reinier de Graaf Hospital (NL)
- Dutch CAA Foundation (NL)
- Beatrix Kinderziekenhuis (NL)
- Willem-Alexander Kinderziekenhuis (NL)
- Erasmus MC - Sophia Children’s Hospital (NL)
- Foundation for Growth Science (JP)
- Wilhelmina Children's Hospital (NL)
Publication Details
- Journal
- The Journal of Clinical Endocrinology & Metabolism
- Published
- 2025-05-26
- DOI
- https://doi.org/10.1210/clinem/dgaf309
- Citations
- 1
- Primary Topic
- Growth Hormone and Insulin-like Growth Factors
- Type
- article
- Field-Weighted Citation Impact
- 1.29