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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....
Autores principales: | Hernández-Porras, Isabel, Jiménez-Catalán, Beatriz, Schuhmacher, Alberto J, Guerra, Carmen |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Taylor & Francis
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4590006/ https://www.ncbi.nlm.nih.gov/pubmed/26458870 http://dx.doi.org/10.1080/21675511.2015.1045169 |
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