Noonan syndrome

Amy E. Roberts, Judith E. Allanson, Marco Tartaglia, Bruce D. Gelb

Research output: Contribution to journalArticle

Abstract

Noonan syndrome is a genetic multisystem disorder characterised by distinctive facial features, developmental delay, learning diffi culties, short stature, congenital heart disease, renal anomalies, lymphatic malformations, and bleeding diffi culties. Mutations that cause Noonan syndrome alter genes encoding proteins with roles in the RAS-MAPK pathway, leading to pathway dysregulation. Management guidelines have been developed. Several clinically relevant genotype-phenotype correlations aid risk assessment and patient management. Increased understanding of the pathophysiology of the disease could help development of pharmacogenetic treatments.

Original languageEnglish
Pages (from-to)333-342
Number of pages10
JournalLancet
Volume381
Issue number9863
DOIs
Publication statusPublished - Jan 2013

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ASJC Scopus subject areas

  • Medicine(all)

Cite this

Roberts, A. E., Allanson, J. E., Tartaglia, M., & Gelb, B. D. (2013). Noonan syndrome. Lancet, 381(9863), 333-342. https://doi.org/10.1016/S0140-6736(12)61023-X