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Article

Molecular and Functional Characterisation of a Novel Intragenic 12q24.21 Deletion Resulting in MED13L Haploinsufficiency Syndrome.

Medicina (Kaunas, Lithuania) - 29 Jun 2023

Siavrienė Evelina, Petraitytė Gunda, Mikštienė Violeta, Maldžienė Živilė, Sasnauskienė Aušra, Žitkutė Vilmantė, Ambrozaitytė Laima, Rančelis Tautvydas, Utkus Algirdas, Kučinskas Vaidutis, Preikšaitienė Eglė

Abstract excerpt

Background and Objectives: Heterozygous pathogenic variants in the MED13L gene cause impaired intellectual development and distinctive facial features with or without cardiac defects (MIM #616789). This complex neurodevelopmental disorder is characterised by various phenotypic features, including plagiocephaly, strabismus, clubfoot, poor speech, and developmental delay. The aim of this study was to evaluate the...

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Identifiers

PMID: 37512036
DOI: 10.3390/medicina59071225
PMCID: PMC10385642

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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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