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Molecular Confirmation of HRAS p.G12S in Siblings with Costello Syndrome
Costello syndrome was first reported based on its characteristic phenotype. Its presentation affects multiple organ systems, including severe failure-to-thrive with macrocephaly, characteristic facial features, hypertrophic cardiomyopathy, papillomata, malignant tumors, and cognitive impairment. Het...
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| Main Authors: | , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2011
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3158836/ https://ncbi.nlm.nih.gov/pubmed/21834037 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.34150 |
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