Exome sequencing improves the molecular diagnostics of paediatric unexplained neurodevelopmental disorders

Exome sequencing improves the molecular diagnostics of paediatric unexplained neurodevelopmental disorders

Abstract 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 developm...

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Main Authors: Marketa Wayhelova, Vladimira Vallova, Petr Broz, Aneta Mikulasova, Jan Smetana, Hana Dynkova Filkova, Dominika Machackova, Kristina Handzusova, Renata Gaillyova, Petr Kuglik
Format: Article
Language:English
Published: BMC 2024-02-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Exome sequencing
Neurodevelopmental disorders
Sequence variant
Copy-number variation
Online Access:https://doi.org/10.1186/s13023-024-03056-6

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