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Next Generation Sequencing Analysis of MODY-X Patients: A Case Report Series

30 Sept 2022

Abstract excerpt

Background: Classic criteria for a maturity-onset diabetes of the young (MODY) diagnosis are often unable to identify all subjects, and traditional Sanger sequencing, using a candidate gene approach, leads to a high prevalence of missed genetic diagnosis, classified as MODY-X. Next generation sequencing (NGS) panels provide a highly sensitive method even for rare forms. Methods: We investigated 28 pediatric...

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PMID: 36294752
DOI: 10.3390/jpm12101613

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