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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Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: American Academy of Pediatrics 2014
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State-of-the-Art Review Article
Accesso online: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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