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Genetic Analysis of Epidermal Inclusion Cysts Reveals NEK9 as a Common Driver of Comedogenesis and Cyst Formation.
J Invest Dermatol
December 2024
Department of Genetics, Yale University School of Medicine, New Haven, CT 06520, USA; Department of Dermatology, Yale University School of Medicine, New Haven, CT 06520, USA; Department of Pathology, Yale University School of Medicine, New Haven, CT 06520, USA. Electronic address:
Mosaic NEK9 mutation, fibrous dysplasia and premature puberty in naevus comedonicus syndrome.
Br J Dermatol
December 2021
Dermatologie, Centre de Référence des Maladies Rares de la Peau, Toulouse, France.
Nevus comedonicus syndrome: A systematic review of the literature.
Pediatr Dermatol
March 2021
Department of Dermatology, James Paget University Hospital, Great Yarmouth, UK.
Nevus comedonicus (NC) syndrome is a condition first identified in 1978. The cause of NC syndrome has been recently proven to be a gain-of-function, mosaic postzygotic mutation of the NEK9 gene. A systematic review of the literature retrieved 43 well-established cases of NC syndrome reported so far.
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