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: | , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Hacettepe University Institute of Child Health
2022-06-01
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| Serija: | The Turkish Journal of Pediatrics |
| Teme: | |
| Online dostop: | https://turkjpediatr.org/article/view/187 |
| Oznake: |
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