Article

Genomic Exploration of Pediatric Neurological Diversity: Lessons from Clinical Exome Panel Sequencing

2024-08-07

Abstract excerpt

<h4>Background: </h4> Pediatric neurological disorders include neurodegenerative disease causing cognitive impairment, vision loss to mention a few. They are one of the important causes of morbidity and mortality in children with diverse etiology. Diagnosis is difficult in spite of genetic work and in only 60% of cases final diagnosis can be achieved. Case presentation: We explore three cases of pediatric neurolog...

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Literature Corpus work: a0ca633f-2e3a-5a04-9cb8-d6bb965ab7ab
DOI: 10.20944/preprints202312.1095.v2

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