Identification and In Vitro Functional Verification of Two Novel Mutations of GHR Gene in the Chinese Children with Laron Syndrome

Identification and In Vitro Functional Verification of Two Novel Mutations of GHR Gene in the Chinese Children with Laron Syndrome

PurposeLaron syndrome (LS) is a severe growth disorder caused by GHR gene mutation or post-receptor pathways defect. The clinical features of these patients collected in our present study were summarized, GHR gene variants were investigated and further in vitro functional verification was carried ou...

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Bibliographic Details
Main Authors: Ran Li, Fengying Gong, Hui Pan, Hanting Liang, Hui Miao, Yuxing Zhao, Lian Duan, Hongbo Yang, Linjie Wang, Shi Chen, Huijuan Zhu
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-04-01
Series:Frontiers in Endocrinology
Subjects:
Laron syndrome
GHR gene mutation
subcellular distribution
STAT5
HepG2 cells
Online Access:https://www.frontiersin.org/articles/10.3389/fendo.2021.605736/full

Internet

https://www.frontiersin.org/articles/10.3389/fendo.2021.605736/full

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