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Clinical Utility of Proband Only Clinical Exome Sequencing in Neurodevelopmental Disorders

Indian J Pediatr, Nov 9, 2023

PMID: 37943464

Chromosomal microarray is recommended as the first line of investigation in neurodevelopmental disorders (NDDs). However, advances in next-generation sequencing have unraveled more than 900 genes associated with NDDs, thus improving the genetic diagnosis. Therefore, this study was conducted to explore the utility of clinical exome sequencing (CES) in NDDs from a tertiary care centre in India.

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  https://pubmed.ncbi.nlm.nih.gov/37943464/

 

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