Noonan syndrome
Noonan syndrome
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DOI：
10.1016/s0140-6736(12)61023-x
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发表时间：
2013-01-26
期刊：
影响因子：
168.9
通讯作者：
Gelb, Bruce D.
中科院分区：
文献类型：
--
作者：
Roberts, Amy E.;Allanson, Judith E.;Gelb, Bruce D.
努南综合征是一种遗传性多系统疾病，其特征是独特的面部特征、发育迟缓、学习困难、身材矮小、先天性心脏病、肾脏异常、淋巴畸形和出血困难。导致努南综合征的突变改变了编码在RAS-MAPK通路中起作用的蛋白质的基因，导致通路失调。制定了管理准则。几种临床相关的基因型-表型相关性有助于风险评估和患者管理。增加对疾病病理生理学的理解有助于药物遗传学治疗的发展。
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.