Article

Diagnostic yield and novel candidate genes for neurodevelopmental disorders by exome sequencing in an unselected cohort with microcephaly

2023-03-16

Abstract excerpt

<h4>Objectives: </h4> Microcephaly is caused by reduced brain volume and most usually associated with a variety of neurodevelopmental disorders (NDDs). To provide an overview of the diagnostic yield of whole exome sequencing (WES) and promote novel candidates in genetically unsolved families, we studied the clinical and genetic landscape of an unselected Chinese cohort of patients with microcephaly. <h4>Methods:...

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Literature Corpus work: 7c685b55-76a0-595c-b183-ddfe1ddd4744
DOI: 10.21203/rs.3.rs-2562928/v1

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