Article
Case report expanding the germline AXIN2- related phenotype to include olfactory neuroblastoma and gastric adenoma.
BMC medical genetics - 17 Aug 2020
Macklin-Mantia Sarah K, Hines Stephanie L, Chaichana Kaisorn L, Donaldson Angela M, Ko Stephen L, Zhai Qihui, Samadder Niloy Jewel, Riegert-Johnson Douglas L
Abstract excerpt
BACKGROUND: Pathogenic AXIN2 variants cause absence of permanent teeth (hypodontia), sparse hair and eye brows (ectodermal dysplasia), and gastrointestinal polyps and cancer. Inheritance is autosomal dominant with variable penetrance. Only twenty- five patients have been reported from five families. A Mayo Clinic pilot program tested 3009 newly diagnosed cancer patients for pathogenic germline variants in 83...
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