50 citations
,
September 2009 in “Molecular Genetics and Metabolism” A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.
36 citations
,
January 2010 in “Journal of Pediatric Endocrinology and Metabolism” A new gene mutation causes vitamin D resistance and hair loss in two unrelated girls.
6 citations
,
November 2017 in “Scientific reports” The R343H mutation in the VDR gene causes vitamin D-resistant rickets with alopecia by impairing specific gene activity.
8 citations
,
December 2016 in “Hormone Research in Paediatrics” Tunisian children with hereditary vitamin D-resistant rickets showed improvement with calcium treatment, and new genetic mutations were identified.
11 citations
,
January 2017 in “Biochemical and biophysical research communications” 1α,25-dihydroxyvitamin D3 directly affects cartilage growth and development.