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Article

Expanding the spectrum of TBL1XR1 deletion: Report of a patient with brain and cardiac malformations.

European journal of medical genetics - 1 Jan 2018

Vaqueiro Ana Carolina, de Oliveira Claudiner Pereira, Cordoba Mara Santos, Versiani Beatriz Ribeiro, de Carvalho Camila Xavier, Alves Rodrigues Pedro Guilherme, de Oliveira Silviene Fabiana, Mazzeu Juliana Forte, Pic-Taylor Aline

Abstract excerpt

The TBL1XR1 gene product is a nuclear protein ubiquitously produced. The protein is a component of SMRT/N-CoR co-repressor complexes and participates in the molecular switch of specific gene transcription. Deletions of the TBL1XR1 gene have been described in two families to date, both presenting intellectual disability and dysmorphisms. Rare recurrent chromosomal micro-rearrangements, particularly those involving...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 29038029
DOI: 10.1016/j.ejmg.2017.10.008

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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