Whole Exome Sequencing Uncovered the Genetic Architecture of Growth Hormone Deficiency Patients

PURPOSE: Congenital growth hormone deficiency (GHD) is a rare and etiologically heterogeneous disease. We aim to screen disease-causing mutations of GHD in a relatively sizable cohort and discover underlying mechanisms via a candidate gene-based mutational burden analysis. METHODS: We retrospectivel...

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Detalles Bibliográficos
Autores principales: Yu, Chenxi, Xie, Bobo, Zhao, Zhengye, Zhao, Sen, Liu, Lian, Cheng, Xi, Li, Xiaoxin, Cao, Bingyan, Shao, Jiashen, Chen, Jiajia, Zhao, Hengqiang, Yan, Zihui, Su, Chang, Niu, Yuchen, Song, Yanning, Wei, Liya, Wang, Yi, Ren, Xiaoya, Fan, Lijun, Zhang, Beibei, Li, Chuan, Gui, Baoheng, Zhang, Yuanqiang, Wang, Lianlei, Chen, Shaoke, Zhang, Jianguo, Wu, Zhihong, Gong, Chunxiu, Fan, Xin, Wu, Nan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8475633/
https://www.ncbi.nlm.nih.gov/pubmed/34589056
http://dx.doi.org/10.3389/fendo.2021.711991

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