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Noonan Syndrome: Clinical Aspects and Molecular Pathogenesis
Noonan syndrome (NS) is a relatively common, clinically variable and genetically heterogeneous developmental disorder characterized by postnatally reduced growth, distinctive facial dysmorphism, cardiac defects and variable cognitive deficits. Other associated features include ectodermal and skeleta...
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| 主要な著者: | , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
S. Karger AG
2010
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2858523/ https://ncbi.nlm.nih.gov/pubmed/20648242 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000276766 |
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