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First report of tethered cord syndrome in a patient with Verheij syndrome.

Ayça KocaagaSevgi YimeniciogluYesim Özdemir AtikelO Özkale Yavuz
Published in: Ophthalmic genetics (2022)
To date, 25 patients have been reported with PUF60 mutations in the medical literature. In this article, we report a patient with VRJS who had the unusual findings of tethered cord syndrome and renal abnormalities. As far as we know, this is the first patient from Turkey who has been diagnosed with Verheij syndrome.
Keyphrases
  • case report
  • systematic review
  • healthcare
  • newly diagnosed
  • ejection fraction