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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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.
格式: Artigo
語言:Inglês
出版: S. Karger AG 2013
主題:
Short Report
在線閱讀: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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