Pathogenic gene screening in 91 Chinese patients with short stature of unknown etiology with a targeted next-generation sequencing panel

Pathogenic gene screening in 91 Chinese patients with short stature of unknown etiology with a targeted next-generation sequencing panel

Abstract Background Dwarfism is a common severe growth disorder, but the etiology is unclear in the majority of cases. Recombinant human growth hormone may be a treatment option, but it has limited efficacy. The currently known laboratory assays do not meet the precision requirements for clinical di...

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Bibliographic Details
Main Authors: Lulu Yang, Chenhui Zhang, Wei Wang, Junqi Wang, Yuan Xiao, Wenli Lu, Xiaoyu Ma, Lifen Chen, Jihong Ni, Defen Wang, Jinxiu Shi, Zhiya Dong
Format: Article
Language:English
Published: BMC 2018-12-01
Series:BMC Medical Genetics
Subjects:
Short stature
Unknown etiology
Next generation sequencing (NGS)
Targeted panel
Pathogenic genes
Online Access:http://link.springer.com/article/10.1186/s12881-018-0730-6

Internet

http://link.springer.com/article/10.1186/s12881-018-0730-6

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