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 syndrom...

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Veröffentlicht in:	Anales de Pediatría 2020-07, Vol.93 (1), p.61.e1
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng ; spa
Schlagworte:	Diagnosis, Differential Genetic Markers Genotype Humans Mitogen-Activated Protein Kinases - genetics Mutation Noonan Syndrome - diagnosis Noonan Syndrome - genetics Noonan Syndrome - physiopathology Noonan Syndrome - therapy Phenotype Proto-Oncogene Proteins p21(ras) - genetics
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