CellWell record HH-501221
Autosomal dominant hypophosphatemic rickets caused by a novel pathogenic variant in FGF23
Babu Francis; Vidhu Ashok; Aysha Ashraf; Sabitha Sasidharan Pillai
2026
In plain language
A 22-month-old girl with rickets had a novel de novo in-frame FGF23 deletion consistent with autosomal dominant hypophosphatemic rickets and improved on phosphate and active vitamin D.
- Evidence
- Emerging
- Design
- Case report
Cite this record: https://thecellwell.org/studies/HH-501221
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