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Coexistence of multiple self-healing squamous epithelioma and features of Loeys-Dietz syndrome caused by a pathogenic missense variant in the kinase domain of TGFBR1.

Schaida SchirwaniBea SuarezMatthew SommerladEmma CordenGeeta BelgiDiana EcclesAdam Fityan
Published in: Clinical and experimental dermatology (2024)
Keyphrases
  • high grade
  • intellectual disability
  • low grade
  • case report
  • protein kinase
  • tyrosine kinase