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

Lulu Yang,Chenhui Zhang,Wei Wang,Junqi Wang,Yuan Xiao,Wenli Lu,Xiaoyu Ma,Lifen Chen,Jihong Ni,Defen Wang,Jinxiu Shi,Zhiya Dong

BMC medical genetics（2018）

Cited 19|Views22

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Abstract

Our findings suggest that syndromes, particularly Noonan syndrome, may be overlooked due to atypical clinical features. This gene panel has been verified to be effective for the rapid screening of genetic etiologies associated with short stature and for guiding precision medicine-based clinical management.

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Key words

Next generation sequencing (NGS),Pathogenic genes,Short stature,Targeted panel,Unknown etiology

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