Noonan syndrome

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• 作者：Dr Amy E Roberts ; MD^a ; ^{amy.roberts@cardio.chboston.org} ; Prof Judith E Allanson ; MD^b ; Marco Tartaglia ; PhD^c ; Prof Bruce D Gelb ; MD^d
• 刊名：The Lancet
• 出版年：2013
• 出版时间：26 January-1 February, 2013
• 年：2013
• 卷：381
• 期：9863
• 页码：333-342
• 全文大小：577 K

文摘

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Summary

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.