Noonan syndrome
Noonan syndrome
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DOI：
10.1002/ajmg.c.30138
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发表时间：
2007-08-15
影响因子：
3.1
通讯作者：
Allanson, Judith E.
中科院分区：
文献类型：
--
作者：
Allanson, Judith E.
努南综合征是一种常见的常染色体显性遗传疾病，由RasMAPK通路中的多个基因引起。成人的表型可能非常微妙，许多成年人只有在出生后才被诊断出更明显的影响儿童。无论诊断是在儿童期还是成年期进行，对许多系统的初步和持续评估都可以带来相当大的健康益处。(c)2007 Wiley-Liss，Inc.
Noonan syndrome is a common autosomal dominant condition caused by multiple genes in the RasMAPK pathway. The adult phenotype can be extremely subtle, and many adults are diagnosed only after the birth of a more obviously affected child. Whether diagnosis is made in childhood or adulthood, initial and ongoing evaluation of many systems can have considerable health benefits. (c) 2007 Wiley-Liss, Inc.