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Noonan Syndrome: Comparing Mutation-Positive with Mutation-Negative Dutch Patients

Noonan syndrome (NS) is an autosomal dominant disorder characterized by facial dysmorphisms, short stature and congenital heart defects. The disorder is genetically heterogeneous and shows clinical overlap with other RASopathies. These syndromes are caused by mutations in a variety of genes leading...

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Detalhes bibliográficos
Main Authors: Croonen, E.A., Nillesen, W., Schrander, C., Jongmans, M., Scheffer, H., Noordam, C., Draaisma, J.M.T., van der Burgt, I., Yntema, H.G.
Formato: Artigo
Idioma:Inglês
Publicado em: S. Karger AG 2013
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3711482/
https://ncbi.nlm.nih.gov/pubmed/23885229
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000350686
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