Article
[Noonan syndrome: genetic and clinical update and treatment options].
Anales de pediatria - 1 Jul 2020
Carcavilla Atilano, Suárez-Ortega Larisa, Rodríguez Sánchez Amparo, Gonzalez-Casado Isabel, Ramón-Krauel Marta, Labarta Jose Ignacio, Quinteiro Gonzalez Sofia, Riaño Galán Isolina, Ezquieta Zubicaray Begoña, López-Siguero Juan Pedro
Abstract excerpt
Noonan syndrome (NS) is a relatively common genetic condition characterised by short stature, congenital heart defects, and distinctive facial features. NS and other clinically overlapping conditions such as NS with multiple lentigines (formerly called LEOPARD syndrome), cardiofaciocutaneous syndrome, or Costello syndrome, are caused by mutations in genes encoding proteins of the RAS-MAPKinases pathway. Because...
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