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Cardio-facio-cutaneous syndrome: Does genotype predict phenotype?
Cardio-facio-cutaneous syndrome is a sporadic multiple congenital anomalies/mental retardation condition principally caused by mutations in BRAF, MEK1, and MEK2. Mutations in KRAS and SHOC2 lead to a phenotype with overlapping features. In approximately 10–30% of individuals with a clinical diagnosi...
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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/PMC3086095/ https://ncbi.nlm.nih.gov/pubmed/21495173 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.c.30295 |
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