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

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....

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7433097/
https://www.ncbi.nlm.nih.gov/pubmed/32807118
http://dx.doi.org/10.1186/s12881-020-01103-0

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