Bitkin, Eda CelebiAymelek, Huri Sema2025-05-102025-05-1020220041-430110.24953/turkjped.2021.8292-s2.0-85134760824https://doi.org/10.24953/turkjped.2021.829https://hdl.handle.net/20.500.14720/14088Background. Hypophosphatemic rickets (HR) is a rare disease caused by several genetic mutations in factors that cause an increase in fibroblast growth factor 23 (FGF23), and renal phosphate transporters. ENPP1 (ectonucleotide pyrophosphatase / phosphodiesterase 1) mutations cause autosomal recessive inheritance hypophosphatemic rickets type 2. Case. In our study, we present a novel mutation in the ENPP1 gene detected in 4 siblings in a single family. Conclusion. Our findings can be applied to further understand molecular pathogenesis and to establish a correlation between genotype and phenotype for HR.eninfo:eu-repo/semantics/openAccessNbspHypophosphatemic RicketsEnpp1 GeneNovel MutationArticle643Q4Q3585591358995741139035WOS:000830892400020