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...

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Detalles Bibliográficos
Autores principales: Wolschendorf, Robin, Eimicke, Toni, Swartz, Jonathan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Case Report
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

Internet

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

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