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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Udgivet i:Rare Dis
Main Authors: Hernández-Porras, Isabel, Jiménez-Catalán, Beatriz, Schuhmacher, Alberto J, Guerra, Carmen
Format: Artigo
Sprog:Inglês
Udgivet: Taylor & Francis 2015
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Addendum
Online adgang: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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