Browsing by Subject "Gastrointestinal stromal tumors"

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    • An XRCC4 Splice Mutation Associated With Severe Short Stature, Gonadal Failure, and Early-Onset Metabolic Syndrome 
      Bruin, Christiaan de; Mericq, Verónica; Andrew, Shayne F.; Duyvenvoorde, Hermine A. van; Verkaik, Nicole S.; Losekoot, Monique; Porollo, Aleksey; Garcia, Hernán; Kuang, Yi; Hanson, Dan; Clayton, Peter; Gent, Dik C. van; Wit, Jan M.; Hwa, Vivian; Dauber, Andrew (The Endocrine Society, 2015)
      Context: Severe short stature can be caused by defects in numerous biological processes including defects in IGF-1 signaling, centromere function, cell cycle control, and DNA damage repair. Many syndromic causes of short ...