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Article

Could the MED13 mutations manifest as a Kabuki-like syndrome?

American journal of medical genetics. Part A - 1 Feb 2021

De Nardi Laura, Faletra Flavio, D'Adamo Adamo Pio, Bianco Anna Monica Rosaria, Athanasakis Emmanouil, Bruno Irene, Barbi Egidio

Abstract excerpt

MED13-related disorder is a new neurodevelopmental disorder recently described in literature, which belongs to the group of CDK8-kinase module genes-associated conditions. It is characterized by variable intellectual disability and/or developmental delays, especially in language. Autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), eye or vision problems, hypotonia, mild congenital...

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Identifiers

PMID: 33258286
DOI: 10.1002/ajmg.a.61994

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Related research

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