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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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Principais autores: Linlin Wei, Yonghui Yang, Tiejia Jiang, Chaolang Zhang, Cuiying Chen, Mingwei Huang, Nannan Li, Huachun Xiong, Feng Gao
Format: Artigo
Sprog:Inglês
Udgivet: BMC 2025-05-01
Serier:BMC Medical Genomics
Fag:
TBL1XR1
Trio-WES
MRD41
Case reports
Pierpont syndrome
Online adgang:https://doi.org/10.1186/s12920-025-02169-6
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