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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| Principais autores: | , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMC
2020-08-01
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| Colecção: | BMC Medical Genetics |
| Assuntos: | |
| Acesso em linha: | http://link.springer.com/article/10.1186/s12881-020-01103-0 |
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