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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Hauptverfasser: 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
Sprache:Inglês
Veröffentlicht: American Academy of Pediatrics 2014
Schlagworte:
State-of-the-Art Review Article
Online Zugang: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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