Article
The phenotype-driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes.
Molecular genetics & genomic medicine - 1 Sept 2020
Jezela-Stanek Aleksandra, Ciara Elżbieta, Jurkiewicz Dorota, Kucharczyk Marzena, Jędrzejowska Maria, Chrzanowska Krystyna H, Krajewska-Walasek Małgorzata, Żemojtel Tomasz
Abstract excerpt
BACKGROUND: 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. METHODS, RESULTS, AND CONCLUSIONS: Here, in a prospective study on a cohort of 21 families...
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