Article

Noonan syndrome: genetic and clinical update and treatment options

2020-07-01

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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Literature Corpus work: 6a5fae26-8dd5-55f5-9c92-5429f7714bac
DOI: 10.1016/j.anpede.2020.04.009

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