Odyssey of a Misclassified Genomic Variant: Insight from an Incidental Finding Assessment

Genetic evaluation of a teenager with seizure found no pathogenic variant in a large gene panel, but an incidental likely pathogenic HNF4A variant, deemed to cause MODY1 diabetes. Diabetes history was absent and glycated hemoglobin normal, but serum calcium was severely low, with abnormally high par...

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Detalles Bibliográficos
Autores principales: Zgheib, Omar, Trombetti, Andrea, Juillerat, André, Fokstuen, Siv
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10472820/
https://www.ncbi.nlm.nih.gov/pubmed/37664540
http://dx.doi.org/10.1177/2329048X231199327

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10472820/
https://www.ncbi.nlm.nih.gov/pubmed/37664540
http://dx.doi.org/10.1177/2329048X231199327

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