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

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 pl...

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Detalles Bibliográficos
Autores principales: Siavrienė, Evelina, Petraitytė, Gunda, Mikštienė, Violeta, Maldžienė, Živilė, Sasnauskienė, Aušra, Žitkutė, Vilmantė, Ambrozaitytė, Laima, Rančelis, Tautvydas, Utkus, Algirdas, Kučinskas, Vaidutis, Preikšaitienė, Eglė
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10385642/
https://www.ncbi.nlm.nih.gov/pubmed/37512036
http://dx.doi.org/10.3390/medicina59071225

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