期刊
LANCET
卷 381, 期 9863, 页码 333-342出版社
ELSEVIER SCIENCE INC
DOI: 10.1016/S0140-6736(12)61023-X
关键词
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资金
- NIH [HL71207]
- Telethon-Italy [GGP10020]
- European commission sixth framework programme
- ERA-net for research programmes on rare diseases (NSEuroNet)
- Associazone Italiana Sindrome di Costello
- Children's Hospital Boston Clinical Research Program Grant
- GeneDx
- Prevention Genetics
- Correlagen
- Harvard/Partners
- Baylor College of Medicine
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.
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