JPRN-UMIN000000529
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Gene analysis associated with short stature and growth hormone responsiveness - Gene analysis associated with short stature and growth hormone responsiveness
概览
- 阶段
- 未知
- 干预措施
- 未指定
- 疾病 / 适应症
- famirial short stature, idopathic short stature, Noonan syndrome, and good/poor respoders of growth hormone therapy
- 发起方
- Keio University, School of Medicine
- 入组人数
- 100
- 状态
- 已完成
- 最后更新
- 2年前
概览
简要总结
We identified heterozygous NPR2 mutations in 2% of Japanese patients with short stature. Our in vitro findings indicate that NPR2 mutations have a dominant negative effect, and their dominant-negative mechanisms vary corresponding to the molecular pathogenesis of the mutations. (J Clin Endocrinol Metab 99: E713, 2014)
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