Different mutations in TBL1XR1 lead to diverse phenotypes of neurodevelopmental disorder: two case reports
Abstract The TBL1XR1 gene (Transducin beta-like 1X-linked receptor 1) is responsible for encoding the TBL1XR1 protein, an important component of the NCoR and SMRT corepressor complexes. 48 missense variants of the TBL1XR1 gene have been reported, which are associated with various phenotypes of neuro...
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| Autors principals: | , , , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
BMC
2025-05-01
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| Col·lecció: | BMC Medical Genomics |
| Matèries: | |
| Accés en línia: | https://doi.org/10.1186/s12920-025-02169-6 |
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