A Homozygous<i>CaSR</i>Mutation Causing a FHH Phenotype Completely Masked by Vitamin D Deficiency Presenting as Rickets

Abstract

CaSR mutations causing mild functional impairment can lead to FHH, even in homozygous patients. The skeletal deformities in the index case were mainly due to severe vitamin D deficiency, and the CaSR mutation did not appear to have played a major independent role in the skeletal phenotype.