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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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Detalhes bibliográficos
Main Authors: Marvin, Monica L., Mazzoni, Serina, Herron, Casey M., Edwards, Sean, Gruber, Stephen B., Petty, Elizabeth M.
Formato: Artigo
Idioma:Inglês
Publicado em: 2011
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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