Article

Clinical and Genetic Spectrum of Dual Rare Genetic Diseases Revealed by Whole-Exome Sequencing in 14 Pediatric Patients

2026-03-11

Abstract excerpt

<title>Abstract</title> <p> <bold>Background</bold> : Dual molecular diagnoses, defined as the coexistence of pathogenic variants in two distinct disease-causing genes, challenge the traditional single-gene model of Mendelian inheritance. With the advent of whole-exome sequencing (WES), such complex genotypes are increasingly recognized. <bold>Objective</bold> : To investigate the clinical and genetic spectru...

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Literature Corpus work: 1a12fd5e-df73-533f-a346-f92549883e82
DOI: 10.21203/rs.3.rs-8320803/v1

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