386 A novel truncating variant of EBF2 disrupts human adipocyte differentiation in lipodystrophy syndromes: an example of a discovery from a clinical translational pipeline

OBJECTIVES/GOALS: Aiming to better understand the molecular pathogenesis of familial partial lipodystrophy (PL), we initiated whole-exome sequencing for our patients with PL syndromes. A novel variant of early B cell factor 2 (EBF2) was identified. Here we report the biological impact of a novel tru...

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Detalles Bibliográficos
Autores principales: Foss-Freitas, Maria C., Wys, Noel, Udler, Miriam, Pais, Lynne, da Rocha, Andre Monteiro, MacDougald, Ormond A., Oral, Elif A., Chun, Tae-Hwa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cambridge University Press 2023
Materias:
Precision Medicine/Health
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10129589/
http://dx.doi.org/10.1017/cts.2023.422

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10129589/
http://dx.doi.org/10.1017/cts.2023.422

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