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Article

Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome.

European journal of human genetics : EJHG - 1 Nov 2015

Cafiero Concetta, Marangi Giuseppe, Orteschi Daniela, Ali Marwan, Asaro Alessia, Ponzi Emanuela, Moncada Alice, Ricciardi Stefania, Murdolo Marina, Mancano Giorgia, Contaldo Ilaria, Leuzzi Vincenzo, Battaglia Domenica, Mercuri Eugenio, Slavotinek Anne M, Zollino Marcella

Abstract excerpt

MED13L haploinsufficiency has recently been described as responsible for syndromic intellectual disability. We planned a search for causative gene variants in seven subjects with intellectual disability and overlapping dysmorphic facial features such as bulbous nasal tip, short mouth and straight eyebrows. We found two de novo frameshift variants in MED13L, consisting in single-nucleotide deletion (c.3765delC)...

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Identifiers

PMID: 25712080
DOI: 10.1038/ejhg.2015.19
PMCID: PMC4613466

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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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