Isolated growth hormone deficiency type IA due to a novel GH1 variant: a case report

Abstract Background A case of isolated growth hormone deficiency type IA (IGHD IA) caused by novel compound heterozygous mutation in the GH1 gene was reported in this study, which aimed to provide insights that will benefit future diagnosis and treatment. Case presentation We analyzed and summarized...

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Bibliographic Details
Main Authors: Xi Yang, Mingming Yuan, Zhuoguang Li, Yanqin Ying, Ling Hou, Xiaoping Luo
Format: Article
Language:English
Published: BMC 2021-09-01
Series:BMC Medical Genomics
Subjects:
GH1
Online Access:https://doi.org/10.1186/s12920-021-01057-z