Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets with Alopecia in Four Egyptian Families: Report of Three Novel Mutations in the Vitamin D Receptor Gene

    January 2014 in “ Journal of Pediatric Endocrinology and Metabolism ”
    Inas Mazen, Samira Ismail, Khalda Amr … Mohamed S. Abdel‐Hamid
    Studysummary This study identified three new mutations in the VDR ligand-binding domain that may cause dysfunction, and noted that oral calcium and calcidol treatment was effective, but only one patient experienced hair growth.
    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
    Read the full study on degruyterbrill.com →
    Discuss this study in the Community →

    Research cited in this study 4

    1. The Role of Vitamin D Receptor Mutations in the Development of Alopecia Molecular and Cellular Endocrinology · 2011
    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. Lack of the Vitamin D Receptor Is Associated with Reduced Epidermal Differentiation and Hair Follicle Growth ˜The œjournal of investigative dermatology/Journal of investigative dermatology · 2002
    4. 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