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Lancet. 2013 Jan 26;381(9863):333-42. doi: 10.1016/S0140-6736(12)61023-X. Epub 2013 Jan 10.

Noonan syndrome.

Author information

1
Department of Cardiology and Division of Genetics, Children's Hospital Boston, Boston, MA 02115, USA. amy.roberts@cardio.chboston.org

Abstract

Noonan syndrome is a genetic multisystem disorder characterised by distinctive facial features, developmental delay, learning difficulties, short stature, congenital heart disease, renal anomalies, lymphatic malformations, and bleeding difficulties. 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.

PMID:
23312968
PMCID:
PMC4267483
DOI:
10.1016/S0140-6736(12)61023-X
[Indexed for MEDLINE]
Free PMC Article

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