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

• Hoofdauteurs: Lulu Yang (Auteur), Chenhui Zhang (Auteur), Wei Wang (Auteur), Junqi Wang (Auteur), Yuan Xiao (Auteur), Wenli Lu (Auteur), Xiaoyu Ma (Auteur), Lifen Chen (Auteur), Jihong Ni (Auteur), Defen Wang (Auteur), Jinxiu Shi (Auteur), Zhiya Dong (Auteur)
• Formaat: Boek
• Gepubliceerd in: BMC, 2018-12-01T00:00:00Z.
• Onderwerpen: article
• Online toegang: Connect to this object online.

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...