The phenotype-driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes.,Molecular Genetics & Genomic Medicine

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The phenotype-driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes.
Molecular Genetics & Genomic Medicine ( IF 1.5 ) Pub Date : 2020-04-26 , DOI: 10.1002/mgg3.1263
Aleksandra Jezela-Stanek _{1,

2} , Elżbieta Ciara ₂ , Dorota Jurkiewicz ₂ , Marzena Kucharczyk ₂ , Maria Jędrzejowska _{2,

3} , Krystyna H Chrzanowska ₂ , Małgorzata Krajewska-Walasek ₂ , Tomasz Żemojtel _{4,

5}

Affiliation

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.

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