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

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

PurposeCongenital 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.MethodsWe retrospectively ana...

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Bibliographic Details
Main Authors: Chenxi Yu, Bobo Xie, Zhengye Zhao, Sen Zhao, Lian Liu, Xi Cheng, Xiaoxin Li, Bingyan Cao, Jiashen Shao, Jiajia Chen, Hengqiang Zhao, Zihui Yan, Chang Su, Yuchen Niu, Yanning Song, Liya Wei, Yi Wang, Xiaoya Ren, Lijun Fan, Beibei Zhang, Chuan Li, Baoheng Gui, Yuanqiang Zhang, Lianlei Wang, Shaoke Chen, Jianguo Zhang, Zhihong Wu, Chunxiu Gong, Xin Fan, Nan Wu
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-09-01
Series:Frontiers in Endocrinology
Subjects:
growth hormone deficiency
whole exome sequencing
genetic architecture
molecular diagnosis
mutational burden analysis
Online Access:https://www.frontiersin.org/articles/10.3389/fendo.2021.711991/full

Internet

https://www.frontiersin.org/articles/10.3389/fendo.2021.711991/full

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