Ontology highlight
ABSTRACT:
SUBMITTER: Jezela-Stanek A
PROVIDER: S-EPMC7507388 | biostudies-literature | 2020 Sep
REPOSITORIES: biostudies-literature
Jezela-Stanek Aleksandra A Ciara Elżbieta E Jurkiewicz Dorota D Kucharczyk Marzena M Jędrzejowska Maria M Chrzanowska Krystyna H KH Krajewska-Walasek Małgorzata M Żemojtel Tomasz T
Molecular genetics & genomic medicine 20200426 9
<h4>Background</h4>Due to extensive clinical and genetic heterogeneity of intellectual disability (ID) syndromes, the process of diagnosis is very challenging even for expert clinicians. Despite recent advancements in molecular diagnostics methodologies, a significant fraction of ID patients remains without a clinical diagnosis.<h4>Methods, results, and conclusions</h4>Here, in a prospective study on a cohort of 21 families (trios) with a child presenting with ID of unknown etiology, we executed ...[more]