Vitamin D dependent rickets type 2A: a case series of two siblings with novel mutation in vitamin D receptor gene responded to high dose oral calcium and calcitriol
VDDR2A can present with or without alopecia.It can be managed with high doses of oral calcium and vitamin D supplements in resource limited areas.
Authors
- Sommayya Aftab (ORCID: https://orcid.org/0000-0002-2397-4698)
- Huma Arshad Cheema (ORCID: https://orcid.org/0000-0002-0463-687X)
- Anjum Saeed
- Abid Qureshi (ORCID: https://orcid.org/0000-0002-1140-1649)
- Noor-ul-ain Mehak
Institutions
- University of Health Sciences Lahore (PK)
Publication Details
- Journal
- Journal of Pediatric Endocrinology and Metabolism
- Published
- 2025-04-12
- DOI
- https://doi.org/10.1515/jpem-2024-0611
- Citations
- 1
- Primary Topic
- Vitamin D Research Studies
- Type
- article
- Field-Weighted Citation Impact
- 1.47