Title: Keratinocytic epidermal nevus syndrome with Schwann cell proliferation, lipomatous tumour and mosaic KRAS mutation
Authors: Farschtschi, Said ×
Mautner, Victor-Felix
Hollants, Silke
Hagel, Christian
Spaepen, Marijke
Schulte, Christoph
Legius, Eric
Brems, Hilde #
Issue Date: 2015
Publisher: BioMed Central
Series Title: BMC Medical Genetics vol:16 issue:1 pages:6
Article number: 10.1186/s12881-015-0146-5
Abstract: Keratinocytic epidermal nevus syndrome (KENS) is a complex disorder not only characterized by the presence of epidermal nevi but also by abnormalities in the internal organ systems. A small number of cases with KENS are molecularly characterized and reported in the literature with somatic activating RAS, FGFR3 and PIK3CA mutations.
ISSN: 1471-2350
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
Laboratory for Molecular Diagnosis
Laboratory for Neurofibromatosis Research
× corresponding author
# (joint) last author

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