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• W3047751103 endingPage "e182" @default.
• W3047751103 startingPage "e175" @default.
• W3047751103 abstract "Hereditary gingival fibromatosis (HGF) is a rare oral condition that may appear as an isolated entity or as part of a genetic disease or syndrome. Molecular and biochemical mechanisms that trigger this pathologic process are not completely understood. In this article, we present a rare case of hereditary gingival fibromatosis in conjunction with a syndromic phenotype, associated with a rare missense mutation of the KCNK4 gene. This mutation induces a change in the structure of the TRAAK channel belonging to the 2-pore potassium channels. The gain of function promoted by the mutation could represent the pathogenetic basis of gingival fibromatosis. Hereditary gingival fibromatosis (HGF) is a rare oral condition that may appear as an isolated entity or as part of a genetic disease or syndrome. Molecular and biochemical mechanisms that trigger this pathologic process are not completely understood. In this article, we present a rare case of hereditary gingival fibromatosis in conjunction with a syndromic phenotype, associated with a rare missense mutation of the KCNK4 gene. This mutation induces a change in the structure of the TRAAK channel belonging to the 2-pore potassium channels. The gain of function promoted by the mutation could represent the pathogenetic basis of gingival fibromatosis." @default.
• W3047751103 created "2020-08-13" @default.
• W3047751103 creator A5016503997 @default.
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• W3047751103 date "2021-06-01" @default.
• W3047751103 modified "2023-10-06" @default.
• W3047751103 title "Hereditary gingival fibromatosis associated with the missense mutation of the KCNK4 gene" @default.
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• W3047751103 doi "https://doi.org/10.1016/j.oooo.2020.08.006" @default.
• W3047751103 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/32981868" @default.
• W3047751103 hasPublicationYear "2021" @default.
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