Article
REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis.
American journal of human genetics - 6 Jul 2017
Bayram Yavuz, White Janson J, Elcioglu Nursel, Cho Megan T, Zadeh Neda, Gedikbasi Asuman, Palanduz Sukru, Ozturk Sukru, Cefle Kivanc, Kasapcopur Ozgur, Coban Akdemir Zeynep, Pehlivan Davut, Begtrup Amber, Carvalho Claudia M B, Paine Ingrid Sophie, Mentes Ali, Bektas-Kayhan Kivanc, Karaca Ender, Jhangiani Shalini N, Muzny Donna M, Gibbs Richard A, Lupski James R
Abstract excerpt
Hereditary gingival fibromatosis (HGF) is the most common genetic form of gingival fibromatosis that develops as a slowly progressive, benign, localized or generalized enlargement of keratinized gingiva. HGF is a genetically heterogeneous disorder and can be transmitted either as an autosomal-dominant or autosomal-recessive trait or appear sporadically. To date, four loci (2p22.1, 2p23.3-p22.3, 5q13-q22, and...
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