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Cardio-Facio-Cutaneous Syndrome: Clinical Features, Diagnosis, and Management Guidelines

Cardio-facio-cutaneous syndrome (CFC) is one of the RASopathies that bears many clinical features in common with the other syndromes in this group, most notably Noonan syndrome and Costello syndrome. CFC is genetically heterogeneous and caused by gene mutations in the Ras/mitogen-activated protein k...

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Bibliographic Details
Main Authors: Pierpont, Mary Ella M., Magoulas, Pilar L., Adi, Saleh, Kavamura, Maria Ines, Neri, Giovanni, Noonan, Jacqueline, Pierpont, Elizabeth I., Reinker, Kent, Roberts, Amy E., Shankar, Suma, Sullivan, Joseph, Wolford, Melinda, Conger, Brenda, Santa Cruz, Molly, Rauen, Katherine A.
Format: Artigo
Language:Inglês
Published: American Academy of Pediatrics 2014
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4179092/
https://ncbi.nlm.nih.gov/pubmed/25180280
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1542/peds.2013-3189
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