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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| Autores principales: | , |
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| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
Hacettepe University Institute of Child Health
2022-06-01
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| Colección: | The Turkish Journal of Pediatrics |
| Materias: | |
| Acceso en línea: | https://turkjpediatr.org/article/view/187 |
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