The first neonatal case of Juvenile Paget disease with homozygous deletion in the <i>TNFRSF11B</i> gene
OBJECTIVES: Gene. CASE PRESENTATION: gene. CONCLUSIONS: JPD should be considered in the differential diagnosis when there is bone deformity in the neonatal period, along with a marked, serial increase in alkaline phosphatase.
Authors
- Didem Ozturk Yarci
- Erbu Yarcı (ORCID: https://orcid.org/0000-0003-4434-0958)
- Bayram Ali̇ Dorum (ORCID: https://orcid.org/0000-0002-2823-8454)
- Gökalp Şenol (ORCID: https://orcid.org/0000-0002-9497-3107)
- HATİCE DİLEK CAN GÖKALP
- Betul Turen (ORCID: https://orcid.org/0000-0001-7011-0246)
- Oznur Yilmaz Bayer (ORCID: https://orcid.org/0000-0002-1883-0278)
Institutions
- Bursa Technical University (TR)
- S.B.Ü. Bursa Yüksek İhtisas Eğitim ve Araştırma Hastanesi (TR)
Publication Details
- Journal
- Journal of Pediatric Endocrinology and Metabolism
- Published
- 2026-05-11
- DOI
- https://doi.org/10.1515/jpem-2026-0056
- Primary Topic
- Bone health and treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.00