Novel compound heterozygous mutations of CLDN16 in a patient with familial hypomagnesemia with hypercalciuria and nephrocalcinosis

Lignende værker

• Exonic CLDN16 mutations associated with familial hypomagnesemia with hypercalciuria and nephrocalcinosis can induce deleterious mRNA alterations
  af: Perdomo-Ramirez, Ana, et al.
  Udgivet: (2019)
• Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis (FHHNC): Compound heterozygous mutation in the claudin 16 (CLDN16) gene
  af: Hampson, Geeta, et al.
  Udgivet: (2008)
• CLDN16 Genotype Predicts Renal Decline in Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis
  af: Konrad, Martin, et al.
  Udgivet: (2008)
• Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis: Phenotype–Genotype Correlation and Outcome in 32 Patients with CLDN16 or CLDN19 Mutations
  af: Godron, Astrid, et al.
  Udgivet: (2012)
• Identification of modifier gene variants overrepresented in familial hypomagnesemia with hypercalciuria and nephrocalcinosis patients with a more aggressive renal phenotype.
  af: Monica Vall-Palomar, et al.
  Udgivet: (2025-04-01)