Novel Vitamin D Receptor Mutations in Hereditary Vitamin D Resistant Rickets in Chinese

    September 2015 in “ PLoS ONE ”
    Lee‐Moay Lim, Xuan Zhao, Mei‐Chyn Chao … Hung‐Chun Chen
    Studysummary This case report documents a female toddler with novel compound heterozygous mutations in the VDR gene causing hereditary 1,25-dihydroxyvitamin D-resistant rickets, expanding the known mutation spectrum for this disease.
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    Research cited in this study 7

    1. Mutations in the Vitamin D Receptor and Hereditary Vitamin D-Resistant Rickets BoneKEy Reports · 2014
    2. The Hair Cycle and Vitamin D Receptor Archives of Biochemistry and Biophysics · 2011
    3. Hereditary Vitamin D-Resistant Rickets (HVDRR) Owing to a Heterozygous Mutation in the Vitamin D Receptor Journal of Bone and Mineral Research · 2011
    4. The Role of Vitamin D Receptor Mutations in the Development of Alopecia Molecular and Cellular Endocrinology · 2011
    5. Genetic Disorders and Defects in Vitamin D Action Endocrinology and metabolism clinics of North America · 2010
    6. Two New Unrelated Cases of Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets with Alopecia Resulting from the Same Novel Nonsense Mutation in the Vitamin D Receptor Gene Journal of Pediatric Endocrinology and Metabolism · 2010
    7. Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets With Alopecia Resulting From a Novel Missense Mutation in the DNA-Binding Domain of the Vitamin D Receptor Molecular Genetics and Metabolism · 2009