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Article

TBL1XR1 associated intellectual disability, a new missense variant with dysmorphic features plus autism: Expanding the phenotypic spectrum.

Clinical genetics - 1 Jun 2021

Arroyo Carrera Ignacio, Fernández-Burriel Miguel, Lapunzina Pablo, Tenorio Jair Antonio, García Navas Verónica Deyanira, Márquez Isidro Elena

Abstract excerpt

Missense and frameshift pathogenic variants and microdeletions involving TBL1XR1 gene have been described in patients with intellectual disability, autism, Rett-like features and schizophrenia, some of them with the clinical diagnosis of Pierpont syndrome, a rare pattern of multiple congenital anomalies, but others without dysmorphic findings or with non-specific ones, and also patients with only some of the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Receptors, Cytoplasmic and Nuclear

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Identifiers

PMID: 33527360
DOI: 10.1111/cge.13937

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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TBL1XR1 associated intellectual disability, a new missense variant with dysmorphic features plus autism: Expanding the phenotypic spectrum.PMID 33527360Read ↗

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Pierpont syndrome due to mutation c.1337A>G in TBL1XR1 gene.Semantic proximity Read ↗

Genotype and Phenotype Correlations for TBL1XR1 in Neurodevelopmental Disorders.Semantic proximity Read ↗

Expanding the genotypic and phenotypic spectrum associated with TBL1XR1 de novo variants.Semantic proximity Read ↗

A heritable microduplication encompassing TBL1XR1 causes a genomic sister‐disorder for the 3q26.32 microdeletion syndromeSemantic proximity Read ↗

A case of West syndrome and global developmental delay in a child with a heterozygous mutation in the TBL1XR1 gene: A case report.Semantic proximity Read ↗

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

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Novel Arthrogryposis Multiplex Congenita Presentation in a Newborn With Pierpont Syndrome.Semantic proximity Read ↗

An animal model for Pierpont syndrome: a mouse bearing the Tbl1xr1Y446C/Y446C mutation.Semantic proximity Read ↗

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