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An overview of CYP27B1 enzyme mutation and management: A case report and review of the literature

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  • معلومة اضافية
    • بيانات النشر:
      Wiley, 2023.
    • الموضوع:
      2023
    • Collection:
      LCC:Medicine
      LCC:Medicine (General)
    • نبذة مختصرة :
      Abstract Vitamin D‐dependent rickets type 1 (VDDRIA) is an autosomal recessive disorder caused by mutations in the Cytochrome P450 Family 27 Subfamily B Member 1 (CYP27B1) gene, which encodes for the enzyme 1 alpha‐hydroxylase. We report a known case of VDDRIA with hypotonia, growth and developmental disorders and discuss about the mutation and its management.
    • File Description:
      electronic resource
    • ISSN:
      2050-0904
    • Relation:
      https://doaj.org/toc/2050-0904
    • الرقم المعرف:
      10.1002/ccr3.7007
    • الرقم المعرف:
      edsdoj.85214e3cc35c46368a898078ea4dc211