Novel SLC34A3 mutation causing hereditary hypophosphataemic rickets with hypercalciuria in a Gambian family

This publication has 10 references indexed in Scilit:

• Follow-up study of Gambian children with rickets-like bone deformities and elevated plasma FGF23: Possible aetiological factors
  Bone, 2012
• Iron deficiency drives an autosomal dominant hypophosphatemic rickets (ADHR) phenotype in fibroblast growth factor-23 (Fgf23) knock-in mice
  Proceedings of the National Academy of Sciences, 2011
• MutationTaster evaluates disease-causing potential of sequence alterations
  Nature Methods, 2010
• A method and server for predicting damaging missense mutations
  Nature Methods, 2010
• FGF23 is elevated in Gambian children with rickets
  Bone, 2008
• Hereditary hypophosphatemias: New genes in the bone?kidney axis (Review Article)
  Nephrology, 2007
• SLC34A3 Mutations in Patients with Hereditary Hypophosphatemic Rickets with Hypercalciuria Predict a Key Role for the Sodium-Phosphate Cotransporter NaPi-IIc in Maintaining Phosphate Homeostasis
  The American Journal of Human Genetics, 2006
• Hereditary Hypophosphatemic Rickets with Hypercalciuria Is Caused by Mutations in the Sodium-Phosphate Cotransporter Gene SLC34A3
  The American Journal of Human Genetics, 2006
• Radiographic scoring method for the assessment of the severity of nutritional rickets
  Journal of Tropical Pediatrics, 2000
• Renal Tubular Reabsorption of Phosphate (TmP/GFR): Indications and Interpretation
  Annals of Clinical Biochemistry: International Journal of Laboratory Medicine, 1998