A human vitamin D receptor mutation causes rickets and impaired Th1/Th17 responses.

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