Noonan Syndrome

Book
In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan.
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Excerpt

Noonan syndrome is a genetically inherited disease with heterogeneous, phenotypic manifestations. Gene mutations involve the RAAS/MAPK (mitogen-activated protein kinase) signaling pathway. The patient presentation can range from mild to severe. Thus, Noonan syndrome is typically a clinical diagnosis.

Publication types

  • Study Guide