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Novel Causative Variants in DYRK1A, KARS, and KAT6A Associated with Intellectual Disability and Additional Phenotypic Features

14 Feb 2017

Abstract excerpt

Patients with unclear patterns of developmental and cognitive delay may go years without a definitive diagnosis despite extensive testing due to overlapping phenotypes of many genetic disorders. In this study, we identified causative variants in DYRK1A , KARS , or KAT6A in four individuals with global developmental delay and various findings including microcephaly and sensorineural hearing loss using whole exome...

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PMID: 28496994
DOI: 10.1055/s-0037-1598639

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Novel Causative Variants in DYRK1A, KARS, and KAT6A Associated with Intellectual Disability and Additional Phenotypic FeaturesPMID 28496994Read ↗

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