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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Bibliographische Detailangaben
Hauptverfasser: Croonen, E.A., Nillesen, W., Schrander, C., Jongmans, M., Scheffer, H., Noordam, C., Draaisma, J.M.T., van der Burgt, I., Yntema, H.G.
Format: Artigo
Sprache:Inglês
Veröffentlicht: S. Karger AG 2013
Schlagworte:
Short Report
Online Zugang: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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