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Article

Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability.

European journal of human genetics : EJHG - 1 Oct 2013

Asadollahi Reza, Oneda Beatrice, Sheth Frenny, Azzarello-Burri Silvia, Baldinger Rosa, Joset Pascal, Latal Beatrice, Knirsch Walter, Desai Soaham, Baumer Alessandra, Houge Gunnar, Andrieux Joris, Rauch Anita

Abstract excerpt

A chromosomal balanced translocation disrupting the MED13L (Mediator complex subunit13-like) gene, encoding a subunit of the Mediator complex, was previously associated with transposition of the great arteries (TGA) and intellectual disability (ID), and led to the identification of missense mutations in three patients with isolated TGA. Recently, a homozygous missense mutation in MED13L was found in two siblings...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 23403903
DOI: 10.1038/ejhg.2013.17
PMCID: PMC3778355

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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