Item request has been placed! ×
Item request cannot be made. ×
loading  Processing Request

Prenatal overgrowth and polydramnios: Would you think about Noonan syndrome?

Item request has been placed! ×
Item request cannot be made. ×
loading   Processing Request
  • معلومة اضافية
    • بيانات النشر:
      Wiley
    • الموضوع:
      2022
    • Collection:
      Directory of Open Access Journals: DOAJ Articles
    • نبذة مختصرة :
      We report on a child with prenatal findings of increased nuchal translucency, polydramnios, ascites, and overgrowth. At birth, she presented length >97° centile, minor facial anomalies, megalencephaly, and Wolff–Parkinson–White syndrome. Whole‐exome sequencing showed a pathogenic variant in the NRAS gene, but no mutations were found in PI3K/AKT/mTOR pathway genes.
    • ISSN:
      2050-0904
    • Relation:
      https://doi.org/10.1002/ccr3.6256; https://doaj.org/toc/2050-0904; https://doaj.org/article/c009a14102b44eb98c8e6aa42a0541ae
    • الرقم المعرف:
      10.1002/ccr3.6256
    • الرقم المعرف:
      edsbas.1F72CE8B