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One-month-old girl presenting with pseudohypoaldosteronism leading to the diagnosis of CDK13-related disorder: a case report and review of the literature.

Renata YakubovAsaly AymanAdi Klein KremerMachiel van den Akker
Published in: Journal of medical case reports (2019)
Probably pseudohypoaldosteronism was a coincidental finding in this girl with a CDK13 mutation, but because only limited information is known about CDK13-related disorders, further investigation could be more informative to clarify this presentation.
Keyphrases
  • cell cycle
  • case report
  • cell proliferation