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Mutation in NRAS in familial Noonan syndrome – case report and review of the literature
BACKGROUND: Noonan syndrome (NS), a heterogeneous developmental disorder associated with variable clinical expression including short stature, congenital heart defect, unusual pectus deformity and typical facial features, is caused by activating mutations in genes involved in the RAS-MAPK signaling...
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| 出版年: | BMC Med Genet |
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| 主要な著者: | , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
BioMed Central
2015
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4607013/ https://ncbi.nlm.nih.gov/pubmed/26467218 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-015-0239-1 |
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