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Unusual Phenotypic Features in a Patient with a Novel Splice Mutation in the GHRHR Gene
Isolated growth hormone deficiency (IGHD) may be of genetic origin. One of the few genes involved in that condition encodes the growth hormone releasing hormone receptor (GHRHR) that, through its ligand (GHRH), plays a pivotal role in the GH synthesis and secretion by the pituitary. Our objective is...
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| Главные авторы: | , , , , , , , , , |
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| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
ScholarOne
2008
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2249753/ https://ncbi.nlm.nih.gov/pubmed/18297129 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2119/2007-00128.Hilal |
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