The phenotype‐driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes

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 withou...

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Detalles Bibliográficos
Publicado en:Mol Genet Genomic Med
Main Authors: Jezela‐Stanek, Aleksandra, Ciara, Elżbieta, Jurkiewicz, Dorota, Kucharczyk, Marzena, Jędrzejowska, Maria, Chrzanowska, Krystyna H., Krajewska‐Walasek, Małgorzata, Żemojtel, Tomasz
Formato: Artigo
Idioma:Inglês
Publicado: John Wiley and Sons Inc. 2020
Assuntos:
Original Articles
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC7507388/
https://ncbi.nlm.nih.gov/pubmed/32337850
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1263
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