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Genetic basis of hereditary hypophosphataemic rickets and phenotype presentation in children and adults.

Endokrynologia Polska - 1 Jan 2021

Tavana Nahid, Thilakavathy Karuppiah, Kennerson Marina L, Ting Tzer Hwu

Abstract excerpt

Hypophosphataemic rickets (HR) is a genetic disorder causing defects in the renal handling of phosphorus, resulting in rickets. HR can be classified into two groups. First- those with excess fibroblast growth factor 23(FGF23) levels, which are due to gene mutations in extrarenal factors and include X-linked dominant hypophosphataemic rickets (XLHR), autosomal dominant hypophosphataemic rickets (ADHR), autosomal...

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PMID: 34292571
DOI: 10.5603/EP.a2021.0062

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