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

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 diagnosis....

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Detalles Bibliográficos
Autores principales: Yang, Lulu, Zhang, Chenhui, Wang, Wei, Wang, Junqi, Xiao, Yuan, Lu, Wenli, Ma, Xiaoyu, Chen, Lifen, Ni, Jihong, Wang, Defen, Shi, Jinxiu, Dong, Zhiya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6292044/
https://www.ncbi.nlm.nih.gov/pubmed/30541462
http://dx.doi.org/10.1186/s12881-018-0730-6

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