Condition: Vitamin D-Dependent Rickets, Type 2A


rs121909790 in VDR gene and Vitamin D-Dependent Rickets, Type 2A PMID 17970811 2008 A novel mutation in the VDR gene in hereditary vitamin D-resistant rickets.

PMID 8961271 1996 Vitamin D receptors from patients with resistance to 1,25-dihydroxyvitamin D3: point mutations confer reduced transactivation in response to ligand and impaired interaction with the retinoid X receptor heterodimeric partner.

PMID 28698609 2017 Functional analyses of a novel missense and other mutations of the vitamin D receptor in association with alopecia.

PMID 7828346 1994 Two mutations causing vitamin D resistant rickets: modelling on the basis of steroid hormone receptor DNA-binding domain crystal structures.

PMID 8381803 1993 A new point mutation in the deoxyribonucleic acid-binding domain of the vitamin D receptor in a kindred with hereditary 1,25-dihydroxyvitamin D-resistant rickets.

PMID 8106618 1994 Hereditary 1 alpha,25-dihydroxyvitamin D-resistant rickets resulting from a mutation in the vitamin D receptor deoxyribonucleic acid-binding domain.

PMID 9005998 1997 Hereditary vitamin D resistant rickets caused by a novel mutation in the vitamin D receptor that results in decreased affinity for hormone and cellular hyporesponsiveness.

PMID 2177843 1990 A unique point mutation in the human vitamin D receptor chromosomal gene confers hereditary resistance to 1,25-dihydroxyvitamin D3.

PMID 2849209 1988 Point mutations in the human vitamin D receptor gene associated with hypocalcemic rickets.

PMID 8675579 1996 A novel mutation in the deoxyribonucleic acid-binding domain of the vitamin D receptor causes hereditary 1,25-dihydroxyvitamin D-resistant rickets.

PMID 1652893 1991 A unique mutation in the vitamin D receptor gene in three Japanese patients with vitamin D-dependent rickets type II: utility of single-strand conformation polymorphism analysis for heterozygous carrier detection.

PMID 8392085 1993 Two mutations in the hormone binding domain of the vitamin D receptor cause tissue resistance to 1,25 dihydroxyvitamin D3.