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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Detalhes bibliográficos

Principais autores:	Linlin Wei, Yonghui Yang, Tiejia Jiang, Chaolang Zhang, Cuiying Chen, Mingwei Huang, Nannan Li, Huachun Xiong, Feng Gao
Formato:	Artigo
Idioma:	Inglês
Publicado em:	BMC 2025-05-01
coleção:	BMC Medical Genomics
Assuntos:	TBL1XR1 Trio-WES MRD41 Case reports Pierpont syndrome
Acesso em linha:	https://doi.org/10.1186/s12920-025-02169-6
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