Hypophosphatemic Rickets with R179W Mutation in FGFR23 Gene - A Rare But Treatable Cause of Refractory Rickets.

Abstract excerpt

Hypophosphatemic rickets is one of the major causes of refractory rickets exhibiting genetic heterogeneity. Most cases are X-linked due to PHEX gene mutations. However recently, autosomal dominant (AD) forms have been described, due to mutations in FGF23. The authors present a 13-year-old girl who had hypophosphatemic rickets due to R179W mutation in FGF23 gene, being the first case in India with this mutation....

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