Vitamin D dependent rickets (VDR)
The hereditary form of vitamin D-dependent rickets type II causes that calcium cannot be absorbed... more
The hereditary form of vitamin D-dependent rickets type II is caused by a defect in the vitamin D receptor gene VDR, which makes the active hormone calcitriol unable to bind. As a consequence, calcium cannot be absorbed intestinally, which results in skeletal malformation and hypomineralization of bones during growth at a young age. Because the VDR gene is also involved in the hair growth cycle, alopecia may occur as well.
1-2 weeks after arrival of the sample in the lab