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 NemerPublished 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.