Orthopedics Medical News about rickets

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Hereditary vitamin D resistant rickets: Identification of a novel splice site mutation in the vitamin D receptor gene and successful treatment with oral calcium therapy
Bone , 07/13/09

Ma NS et al. - A novel splice site mutation was identified in the VDR gene that caused exon 8 to be skipped. The mutation deleted amino acids 303–341 in the VDR ligand-binding domain, which is expected to render the VDR non-functional. Nevertheless, successful outpatient treatment was achieved with frequent high doses of oral calcium.

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