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Article

Arterial aneurysm and dissection: toward the evolving phenotype of Tatton-Brown-Rahman syndrome.

Journal of medical genetics - 29 Aug 2024

Totten Vicken, Teixido-Tura Gisela, Lopez-Grondona Fermina, Fernandez-Alvarez Paula, Lasa-Aranzasti Amaia, Muñoz-Cabello Patricia, Kosaki Rika, Tizzano Eduardo F, Dewals Wendy, Borràs Emma, Cañas Elena Gonzalez, Almoguera Berta, Loeys Bart, Valenzuena Irene

Abstract excerpt

BACKGROUND: Tatton-Brown-Rahman syndrome (TBRS) is a rare disorder, caused by DNMT3A heterozygous pathogenic variants, and first described in 2014. TBRS is characterised by overgrowth, intellectual disability, facial dysmorphism, hypotonia and musculoskeletal features, as well as neurological and psychiatric features. Cardiac manifestations have also been reported, mainly congenital malformations such as atrial...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 38960581
DOI: 10.1136/jmg-2024-109861

Genes

DNMT3A

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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