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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Hlavní autoři:	Eda Çelebi Bitkin, Huri Sema Aymelek
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Hacettepe University Institute of Child Health 2022-06-01
Edice:	The Turkish Journal of Pediatrics
Témata:	ENPP1 gene hypophosphatemic rickets novel mutation
On-line přístup:	https://turkjpediatr.org/article/view/187
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