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

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 the cl...

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Detalles Bibliográficos
Autores principales: Yang, Xi, Yuan, Mingming, Li, Zhuoguang, Ying, Yanqin, Hou, Ling, Luo, Xiaoping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8411534/
https://www.ncbi.nlm.nih.gov/pubmed/34470639
http://dx.doi.org/10.1186/s12920-021-01057-z