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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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| Gepubliceerd in: | BMC Med Genet |
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| Hoofdauteurs: | , , , , , , , |
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
BioMed Central
2015
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| Onderwerpen: | |
| Online toegang: | 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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