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The impact of the genetic background in the Noonan syndrome phenotype induced by K-Ras(V14I)
Noonan syndrome (NS) is an autosomal dominant genetic disorder characterized by short stature, craniofacial dysmorphism, and congenital heart defects. A significant fraction of NS-patients also develop myeloproliferative disorders. The penetrance of these defects varies considerably among patients....
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| Publicat a: | Rare Dis |
|---|---|
| Autors principals: | , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Taylor & Francis
2015
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4590006/ https://ncbi.nlm.nih.gov/pubmed/26458870 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1080/21675511.2015.1045169 |
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