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Siblings With HNF4A Congenital Hyperinsulinism From Possible Parental Gonadal Mosaicism
Congenital hyperinsulinism is the most common cause of persistent hypoglycemia in early infancy. Mutations in the gene for heterozygous hepatocyte nuclear transcription factor 4-alpha (HNF4A) account for approximately 5% of cases and are inherited in an autosomal dominant fashion or arise as de novo...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Oxford University Press
2023
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10580462/ https://www.ncbi.nlm.nih.gov/pubmed/37908999 http://dx.doi.org/10.1210/jcemcr/luad089 |