Two Siblings With a Novel Nonsense Mutation, p.R50X, in the Vitamin D Receptor Gene

    March 2011 in “ Endocrine ”
    Vichit Supornsilchai, Yodporn Hiranras, Suttipong Wacharasindhu … Vorasuk Shotelersuk
    Studysummary In this study, researchers identified a novel p.R50X mutation in the vitamin D receptor gene, linked to hereditary vitamin D-resistant rickets in two siblings.
    Automatically generated from the study's abstract, not written by a person, and not a review of the full paper. Not medical advice or a treatment recommendation. Read the original study, and consult a qualified healthcare professional before changing treatment. Full disclaimer
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    Research cited in this study 9

    1. Genetic Disorders and Defects in Vitamin D Action Endocrinology and metabolism clinics of North America · 2010
    2. 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
    3. A Girl with a Novel Splice Site Mutation in VDR Supports the Role of a Ligand-Independent VDR Function on Hair Cycling Hormone Research in Paediatrics · 2006
    4. Hereditary 1,25-Dihydroxyvitamin D Resistant Rickets Due to a Mutation Causing Multiple Defects in Vitamin D Receptor Function Endocrinology · 2004
    5. Physical And Functional Interaction Between The Vitamin D Receptor And Hairless Corepressor, Two Proteins Required For Hair Cycling Journal of Biological Chemistry · 2003
    6. Atrichia Caused by Mutations in the Vitamin D Receptor Gene Is a Phenocopy of Generalized Atrichia Caused by Mutations in the Hairless Gene ˜The œjournal of investigative dermatology/Journal of investigative dermatology · 2001
    7. Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets Due to an Opal Mutation Causing Premature Termination of the Vitamin D Receptor Journal of bone and mineral research · 1998
    8. Analysis of the Relation Between Alopecia and Resistance to 1,25-Dihydroxyvitamin D Clinical Endocrinology · 1986
    9. Vitamin D Resistant Rickets With Alopecia: A Form of End Organ Resistance to 1,25 Dihydroxy Vitamin D Clinical endocrinology · 1981