Exome sequencing improves the molecular diagnostics of paediatric unexplained neurodevelopmental disorders

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 intellectua...

Source: Orphanet Journal of Rare Diseases - February 6, 2024 Category: Internal Medicine Authors: Marketa Wayhelova, Vladimira Vallova, Petr Broz, Aneta Mikulasova, Jan Smetana, Hana Dynkova Filkova, Dominika Machackova, Kristina Handzusova, Renata Gaillyova and Petr Kuglik Tags: Research Source Type: research