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Article

A de novo frameshift variant in MED13 gene in a patient with autism spectrum disorder and magnetic resonance imaging abnormalities mimicking tuberous sclerosis.

American journal of medical genetics. Part A - 1 Aug 2024

Pantalone Gloria, Mancardi Maria Margherita, Rossi Andrea, Romanelli Roberta, Marasco Elena, Carla Marini

Abstract excerpt

The mediator complex subunit 13 (MED13) gene is implicated in neurodevelopmental disorders including autism spectrum disorder (ASD), intellectual disability, and speech delay with varying severity and course. Additional, extra central nervous system, features include eye or vision problems, hypotonia, congenital heart abnormalities, and dysmorphisms. We describe a 7-year- and 4-month-old girl evaluated for ASD...

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Source

Identifiers

PMID: 38528425
DOI: 10.1002/ajmg.a.63611

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