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A case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with a novel frameshift variant in GATA3, p.W10Cfs40, lacks kidney malformation

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اقرأ على الانترنت اقرأ أكثر حفظ في قائمتي
  • معلومة اضافية
    • بيانات النشر:
      Wiley, 2020.
    • الموضوع:
      2020
    • Collection:
      LCC:Medicine
      LCC:Medicine (General)
    • نبذة مختصرة :
      Abstract Autosomal dominant hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome are typically diagnosed by manifestations of the three features with a positive family history. Our case carried a de novo variant in causative gene, GATA3, but presenting no renal dysplasia or family history. The phenotypic heterogeneity raises a caution for diagnosis.
    • File Description:
      electronic resource
    • ISSN:
      2050-0904
    • Relation:
      https://doaj.org/toc/2050-0904
    • الرقم المعرف:
      10.1002/ccr3.3186
    • الرقم المعرف:
      edsdoj.43c5c4f10fc74e1891a01b40795994bd