Noonan syndrome

被引：74

作者：

Allanson, Judith E. ^{[1
]}

机构：

[1] Childrens Hosp Eastern Ontario, Dept Genet, Ottawa, ON K1H 8L1, Canada

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS | 2007年 / 145C卷 / 03期

关键词：

Noonan syndrome; congenital heart defects; hypertrophic cardiomyopathy; short stature; anticipatory guidance;

D O I：

10.1002/ajmg.c.30138

中图分类号：

Q3 [遗传学];

学科分类号：

071007 [遗传学]; 090102 [作物遗传育种];

摘要：

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.

引用

页码：274 / 279

页数：6

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