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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...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2021
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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 |