Emergence of osteolysis as a new radiological feature in a case with a novel <i>BMP2</i> gene variant
This report identifies a novel <i>BMP2</i> nonsense variant and introduces osteolysis as a previously unrecognized phenotype. These findings highlight the necessity of longitudinal skeletal monitoring in BMP2-related conditions and underscore the importance of genetic evaluation in patients with subtle skeletal dysplasias to facilitate early diagnosis and management.
Authors
- Mehmet Kocabey (ORCID: https://orcid.org/0000-0001-9565-6907)
- Fatma Ceren Sarıoğlu (ORCID: https://orcid.org/0000-0002-6714-2367)
- Korcan Demir (ORCID: https://orcid.org/0000-0002-8334-2422)
- Semra Gürsoy (ORCID: https://orcid.org/0000-0002-6795-3012)
- Merve Karaca (ORCID: https://orcid.org/0000-0002-6396-585X)
- Özlem Giray Bozkaya (ORCID: https://orcid.org/0000-0003-1455-308X)
- Suzan Süncak (ORCID: https://orcid.org/0009-0006-3232-7843)
- Ayfer Ülgenalp
Institutions
- Dokuz Eylül University (TR)
Publication Details
- Journal
- Journal of Pediatric Endocrinology and Metabolism
- Published
- 2025-04-26
- DOI
- https://doi.org/10.1515/jpem-2025-0103
- Primary Topic
- TGF-β signaling in diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00