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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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| Main Authors: | , , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
S. Karger AG
2013
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| 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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