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AXIN2-Associated Autosomal Dominant Ectodermal Dysplasia and Neoplastic Syndrome
We describe a family with a novel, inherited AXIN2 mutation (c.1989G>A) segregating in an autosomal dominant pattern with oligodontia and variable other findings including colonic polyposis, gastric polyps, a mild ectodermal dysplasia phenotype with sparse hair and eyebrows, and early onset color...
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| Main Authors: | , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2011
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3094478/ https://ncbi.nlm.nih.gov/pubmed/21416598 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.33927 |
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