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Hereditary vitamin D-resistant rickets in Lebanese patients: the p.R391S and p.H397P variants have different phenotypes.

Rabih AndaryAbdul-Karim El-Hage-SleimanTheresa FarhatSami SanjadGeorges Nemer
Published in: Journal of pediatric endocrinology & metabolism : JPEM (2017)
This is the first report of VDR mutations in Lebanon with promising clinical outcomes despite the severity of the phenotypes.
Keyphrases
  • end stage renal disease
  • ejection fraction
  • newly diagnosed
  • chronic kidney disease
  • gene expression
  • dna methylation
  • patient reported