Spectrum of mutations and genotype–phenotype analysis in Noonan syndrome patients with RIT1 mutations
出版年份 2015 全文链接
标题
Spectrum of mutations and genotype–phenotype analysis in Noonan syndrome patients with RIT1 mutations
作者
关键词
Intellectual Disability, Atrial Septal Defect, Hypertrophic Cardiomyopathy, Hypoplastic Left Heart Syndrome, Tolvaptan
出版物
HUMAN GENETICS
Volume 135, Issue 2, Pages 209-222
出版商
Springer Nature
发表日期
2015-12-29
DOI
10.1007/s00439-015-1627-5
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Perinatal features of the RASopathies: Noonan syndrome, Cardiofaciocutaneous syndrome and Costello syndrome
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