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Identification of Codon 146 KRAS Variants in Isolated Epidermal Nevus and Multiple Lesions in Oculoectodermal Syndrome: Confirmation of the Phenotypic Continuum of Mosaic RASopathies

  • Aude Beyens,
  • Laure Dequeker,
  • Hilde Brems,
  • Sandra Janssens,
  • Hannes Syryn,
  • Anne D’Hooghe,
  • Pascale De Paepe,
  • Lieve Vanwalleghem,
  • Annelies Stockman and
  • Bert Callewaert
  • + 4 authors
Int. J. Mol. Sci.2022, 23(7), 4036;https://doi.org/10.3390/ijms23074036

6 April 2022

Mosaic RASopathies are a molecularly heterogeneous group of (neuro)cutaneous syndromes with high phenotypical variability. Postzygotic variants in KRAS have been described in oculoectodermal syndrome (OES), encephalocraniocutaneous lipomatosis (ECCL)...

(This article belongs to the Special Issue Molecular Advances in Skin Diseases)
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