A girl with a novel splice site mutation in VDR supports the role of a ligand-independent VDR function on hair cycling
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Mutations in vitamin D receptor (VDR) cause hereditary vitamin D resistant rickets (HVDRR). We reported a Thai girl with HVDRR, presenting with an early onset of rickets and partial alopecia. She was a product of a consanguineous couple. Mutation analysis show... ...
