Article
Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth.
Nature genetics - 1 Aug 2007
Douglas Jenny, Cilliers Deirdre, Coleman Kim, Tatton-Brown Katrina, Barker Karen, Bernhard Brigitte, Burn John, Huson Susan, Josifova Dragana, Lacombe Didier, Malik Mohsin, Mansour Sahar, Reid Evan, Cormier-Daire Valerie, Cole Trevor, Rahman Nazneen
Abstract excerpt
17q11 microdeletions that encompass NF1 cause 5%-10% of cases of neurofibromatosis type 1, and individuals with microdeletions are typically taller than individuals with intragenic NF1 mutations, suggesting that deletion of a neighboring gene might promote human growth. We identified mutations in...
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