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...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Cambridge University Press
2023-04-01
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| Series: | Journal of Clinical and Translational Science |
| Online Access: | https://www.cambridge.org/core/product/identifier/S2059866123004223/type/journal_article |