Inheritance of a paternal ABCC8 variant and maternal loss of heterozygosity at 11p15 retrospectively unmasks the etiology in a case of Congenital hyperinsulinism

Advances in genomics and (18)F‐DOPA PET‐CT imaging have transformed the management of infants with Congenital Hyperinsulinism. Preoperative diagnosis of focal hyperinsulinism permits limited pancreatectomy with improved clinical outcomes while knowledge of the molecular etiology informs genetic coun...

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Detalles Bibliográficos
Autores principales: Joyce, Caroline M., Houghton, Jayne A., O’Halloran, Domhnall J., O’Shea, Paula M., O’Connell, Susan M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7364106/
https://www.ncbi.nlm.nih.gov/pubmed/32695361
http://dx.doi.org/10.1002/ccr3.2885

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7364106/
https://www.ncbi.nlm.nih.gov/pubmed/32695361
http://dx.doi.org/10.1002/ccr3.2885

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