A case of digenic maturity onset diabetes of the young with heterozygous variants in both HNF1 Α and HNF1Β genes
CONCLUSION: Digenic inheritance of MODY pathogenic variants is probably more common than currently reported in literature. The use of Next Generation Sequencing panels in testing strategies for MODY could unmask such cases that would otherwise remain undiagnosed.PMID:34161864 | DOI:10.1016/j.ejmg.2021.104264
Source: European Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Konstantina Patouni Ondrej Cinek Stepanka Pruhova Lenka Elblova Maria Xatzipsalti Amalia Sertedaki Andriani Vazeou Source Type: research