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Dissecting TSC2-mutated renal and hepatic angiomyolipomas in an individual with ARID1B-associated intellectual disability.

Bernt PoppAbbas AgaimyCornelia KrausKarl X KnaupArif B EkiciSteffen UebeAndré ReisMichael WiesenerChristiane Zweier
Published in: BMC cancer (2019)
This unique case highlights the blurred line between tumor genetics and post-zygotic events that can complicate exact molecular diagnoses in patients with rare manifestations. It also demonstrates the relevance of multiple disorders in a single individual, the challenges of detecting low-grade mosaicisms, and the importance of proper diagnosis for treatment and surveillance.
Keyphrases
  • low grade
  • intellectual disability
  • high grade
  • autism spectrum disorder
  • public health
  • combination therapy