Diagnostic Whole Exome Sequencing in Patients with Short Stature
Huijuan Zhu, Ziying Yang, Jun Sun, Wei Li, Hongbo Yang, Linjie Wang, Fengying Gong, Shi Chen, Lin Lü, Hui Miao, Xianxian Yuan, Hanting Liang, Ran Li, Hui Huang, Zhiyu Peng, , Hui Pan
This study uses whole exome sequencing to identify genetic causes of short stature in 20 patients, finding molecular diagnoses in 45% with discrepancies between clinical and genetic diagnoses.
bioRxiv · Sep 12, 2018 · PreprintGenetics