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

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

Abstract 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 remain...

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Bibliographic Details
Main Authors: Aleksandra Jezela‐Stanek, Elżbieta Ciara, Dorota Jurkiewicz, Marzena Kucharczyk, Maria Jędrzejowska, Krystyna H. Chrzanowska, Małgorzata Krajewska‐Walasek, Tomasz Żemojtel
Format: Article
Language:English
Published: Wiley 2020-09-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
AP4M1
dysmorphology
EP300
HPO
intellectual disability patients
KMT2A
Online Access:https://doi.org/10.1002/mgg3.1263

Internet

https://doi.org/10.1002/mgg3.1263

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