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...

Celý popis

Uloženo v:
Podrobná bibliografie
Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: American Academy of Pediatrics 2014
Témata:
State-of-the-Art Review Article
On-line přístup: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
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky