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Autosomal recessive hypophosphatemic rickets type 2; a novel mutation in the ENPP1 gene

Background. 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 re...

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Principais autores: Eda Çelebi Bitkin, Huri Sema Aymelek
פורמט: Artigo
שפה:Inglês
יצא לאור: Hacettepe University Institute of Child Health 2022-06-01
סדרה:The Turkish Journal of Pediatrics
נושאים:
ENPP1 gene
hypophosphatemic rickets
novel mutation
גישה מקוונת:https://turkjpediatr.org/article/view/187
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