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Article

Further confirmation of the MED13L haploinsufficiency syndrome.

European journal of human genetics : EJHG - 1 Jan 2015

van Haelst Mieke M, Monroe Glen R, Duran Karen, van Binsbergen Ellen, Breur Johannes M, Giltay Jacques C, van Haaften Gijs

Abstract excerpt

MED13L haploinsufficiency syndrome has been described in two patients and is characterized by moderate intellectual disability (ID), conotruncal heart defects, facial abnormalities and hypotonia. Missense mutations in MED13L are linked to transposition of the great arteries and non-syndromal intellectual disability. Here we describe two novel patients with de novo MED13L aberrations. The first patient has a de...

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Identifiers

PMID: 24781760
DOI: 10.1038/ejhg.2014.69
PMCID: PMC4266749

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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