Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature
Xin Fan, Sen Zhao, Chenxi Yu, Di Wu, Zihui Yan, Lijun Fan, Yanning Song, Yi Wang, Chuan Li, Yue Ming, Baoheng Gui, Yuchen Niu, Xiaoxin Li, Xinzhuang Yang, Shiyu Luo, Qiang Zhang, Xiuli Zhao, Hui Pan, Mei Li, Weibo Xia, Guixing Qiu, Pengfei Liu, Shuyang Zhang, Jianguo Zhang, Zhihong Wu, James R. Lupski, Jennifer E. Posey, Shaoke Chen, Chunxiu Gong, Nan Wu
Topics & Concepts
Short statureGenetic architectureExome sequencingExomeIdiopathic short statureGeneticsMedicineCohortDiseasePhenotypePediatricsGeneBiologyBioinformaticsInternal medicineGrowth hormoneHormoneGrowth Hormone and Insulin-like Growth FactorsRNA modifications and cancerGenomics and Rare Diseases