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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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Библиографические подробности
Опубликовано в: :Horm Res Paediatr
Главные авторы: Verdecchia, Federica, Akcan, Nese, Dastamani, Antonia, Morgan, Kate, Semple, Robert K., Shah, Pratik
Формат: Artigo
Язык:Inglês
Опубликовано: S. Karger AG 2021
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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