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Unusual Glycemic Presentations in a Child with a Novel Heterozygous Intragenic INSR Deletion
BACKGROUND: Mutations of the insulin receptor (INSR) gene lead to a wide spectrum of inherited insulin resistance (IR) syndromes. Among these, type A-IR, usually caused by dominant negative INSR mutations, generally presents peri-pubertally in girls. CASE: A 2.8-year-old girl was referred due to rec...
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| Опубликовано в: : | Horm Res Paediatr |
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| Главные авторы: | , , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
S. Karger AG
2021
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7949216/ https://ncbi.nlm.nih.gov/pubmed/33040071 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000510462 |
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