Article
Identification and In Vitro Functional Verification of Two Novel Mutations of GHR Gene in the Chinese Children with Laron Syndrome.
Frontiers in endocrinology - 1 Jan 2021
Li Ran, Gong Fengying, Pan Hui, Liang Hanting, Miao Hui, Zhao Yuxing, Duan Lian, Yang Hongbo, Wang Linjie, Chen Shi, Zhu Huijuan
Abstract excerpt
Purpose: Laron 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 out. Methods: Four patients with LS were collected, their clinical characteristics were summarized, genomic DNA was...
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