van der Eerden, Bram C J
A human vitamin D receptor mutation causes rickets and impaired Th1/Th17 responses. [electronic resource]
- Bone Dec 2014
- 6-11 p. digital
Publication Type: Case Reports; Journal Article
1873-2763
10.1016/j.bone.2014.08.005 doi
Adolescent
Age of Onset
Child
Child, Preschool
Female
Humans
Infant
Male
Point Mutation
Real-Time Polymerase Chain Reaction
Receptors, Calcitriol--genetics
Rickets, Hypophosphatemic--genetics
Siblings
Th1 Cells--immunology
Th17 Cells--immunology