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Article

Exome sequencing improves the molecular diagnostics of paediatric unexplained neurodevelopmental disorders

6 Feb 2024

Abstract excerpt

BACKGROUND: Neurodevelopmental disorders (NDDs) and/or associated multiple congenital abnormalities (MCAs) represent a genetically heterogeneous group of conditions with an adverse prognosis for the quality of intellectual and social abilities and common daily functioning. The rapid development of exome sequencing (ES) techniques, together with trio-based analysis, nowadays leads to up to 50% diagnostic yield....

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PMID: 38321498
DOI: 10.1186/s13023-024-03056-6

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