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

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...

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Detalles Bibliográficos
Autores principales: Li, Ran, Gong, Fengying, Pan, Hui, Liang, Hanting, Miao, Hui, Zhao, Yuxing, Duan, Lian, Yang, Hongbo, Wang, Linjie, Chen, Shi, Zhu, Huijuan
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/PMC8072467/
https://www.ncbi.nlm.nih.gov/pubmed/33912130
http://dx.doi.org/10.3389/fendo.2021.605736

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