Case report expanding the germline AXIN2- related phenotype to include olfactory neuroblastoma and gastric adenoma

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 p...

Source: BMC Medical Genetics - August 17, 2020 Category: Genetics & Stem Cells Authors: Sarah K. Macklin- Mantia, Stephanie L. Hines, Kaisorn L. Chaichana, Angela M. Donaldson, Stephen L. Ko, Qihui Zhai, Niloy Jewel Samadder and Douglas L. Riegert-Johnson Tags: Case report Source Type: research