Noonan syndrome: genetic and clinical update and treatment options

Noonan syndrome: genetic and clinical update and treatment options

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 syndro...

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Bibliographic Details
Main Authors: Atilano Carcavilla, Larisa Suárez-Ortega, Amparo Rodríguez Sánchez, Isabel Gonzalez-Casado, Marta Ramón-Krauel, Jose Ignacio Labarta, Sofia Quinteiro Gonzalez, Isolina Riaño Galán, Juan Pedro López-Siguero
Format: Article
Language:Spanish
Published: Elsevier 2020-07-01
Series:Anales de Pediatría (English Edition)
Subjects:
Rasopatías
Vía RAS-MAPK
Síndrome de Noonan
Guía
Talla baja
Cardiopatía congénita
Online Access:http://www.sciencedirect.com/science/article/pii/S2341287920300909

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http://www.sciencedirect.com/science/article/pii/S2341287920300909

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