151 citations,
June 2010 in “Endocrinology and metabolism clinics of North America” Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.
42 citations,
July 2007 in “Journal of Biological Chemistry” Most Hairless gene mutations reduce its ability to work with the Vitamin D Receptor, which might explain a certain type of hair loss.
29 citations,
January 2003 in “KARGER eBooks” HVDRR is caused by VDR gene mutations, leading to vitamin D resistance, treatable with high calcium doses, but alopecia remains permanent.
139 citations,
September 2001 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the Vitamin D receptor gene can cause hair loss similar to mutations in the Hairless gene.
1308 citations,
March 1998 in “Journal of bone and mineral research” The vitamin D receptor is crucial for bone health and affects various body systems, with mutations potentially leading to disease.