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

• Main Authors: Tavana, Nahid, Thilakavathy, Karuppiah, Kennerson, Marina L., Ting, Tzer Hwu
• Format: Article
• Published: Via Medica 2021
• Online Access: http://psasir.upm.edu.my/id/eprint/96184/; https://journals.viamedica.pl/endokrynologia_polska/article/view/72827
• Institution: Universiti Putra Malaysia

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...