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

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

Abstract 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 f...

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Bibliographic Details
Main Authors: Sarah K. Macklin- Mantia, Stephanie L. Hines, Kaisorn L. Chaichana, Angela M. Donaldson, Stephen L. Ko, Qihui Zhai, Niloy Jewel Samadder, Douglas L. Riegert-Johnson
Format: Article
Language:English
Published: BMC 2020-08-01
Series:BMC Medical Genetics
Subjects:
AXIN2
Hereditary cancer syndrome
Hereditary polyposis
Hereditary colorectal cancer
Hypodontia
Olfactory neuroblastoma
Online Access:http://link.springer.com/article/10.1186/s12881-020-01103-0

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http://link.springer.com/article/10.1186/s12881-020-01103-0

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