Description of 5 Novel SLC34A3/NPT2c Mutations Causing Hereditary Hypophosphatemic Rickets With Hypercalciuria

Antzeko izenburuak

• Hereditary Hypophosphatemic Rickets With Hypercalciuria and Nephrolithiasis—Identification of a Novel SLC34A3/NaPi-IIc Mutation
  nork: Phulwani, Priya, et al.
  Argitaratua: (2011)
• Late-Onset Hereditary Hypophosphatemic Rickets with Hypercalciuria (HHRH) Due to Mutation of SLC34A3/NPT2c
  nork: Dhir, Gauri, et al.
  Argitaratua: (2016)
• Description of a novel SLC34A3.c.671delT mutation causing hereditary hypophosphatemic rickets with hypercalciuria in two adolescent boys and response to recombinant human growth hormone
  nork: Dreimane, Daina, et al.
  Argitaratua: (2020)
• SLC34A3 Intronic Deletion in an Iranian Kindred with Hereditary Hypophosphatemic Rickets with Hypercalciuria
  nork: Hasani-Ranjbar, Shirin, et al.
  Argitaratua: (2018)
• Newly identified intronic and known pathogenic point mutations in SLC34A3/NPT2c cause hereditary hypophosphatemic rickets with hypercalciuria
  nork: Yujing Sun, et al.
  Argitaratua: (2025-03-01)