Case report expanding the germline AXIN2- related phenotype to include olfactory neuroblastoma and gastric adenoma
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DOI: 10.1186/s12881-020-01103-0
Abstract: 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… read more here.
Keywords: olfactory neuroblastoma; axin2; germline axin2; gastric adenoma ... See more keywords