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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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Autors principals: Gripp, Karen W., Stabley, Deborah L., Geller, Peter L., Hopkins, Elizabeth, Stevenson, David A., Carey, John C., Sol-Church, Katia
Format: Artigo
Idioma:Inglês
Publicat: 2011
Matèries:
Accés en línia: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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