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References OMIM Gene GeneReviews HGMD HGNC
last update : 03-12-2015
Symbol CWS4
Location 10q23.31
Name Cowden syndrome 4
Corresponding gene KLLN
Main clinical features . hamartomatous polyps of the gastrointestinal tract, mucocutaneous lesions, and increased risk of developing neoplasms
  • multiple hamartomatous lesions, especially of the skin, mucous membranes, breast and thyroid, are encountered; verrucous skin lesions of the face and limbs, cobblestone-like papules of the gingiva and buccal mucosa, and multiple facial trichilemmomas
  • Genetic determination not applicable
    Function/system disorder endocrinology
    Type disease