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Article

Aortic root dilatation and dilated cardiomyopathy in an adult with Tatton-Brown-Rahman syndrome.

American journal of medical genetics. Part A - 1 Feb 2022

Cecchi Alana C, Haidar Amier, Marin Isabella, Kwartler Callie S, Prakash Siddharth K, Milewicz Dianna M

Abstract excerpt

Tatton-Brown-Rahman syndrome is an autosomal dominant overgrowth syndrome caused by pathogenic DNMT3A variants in the germline. Clinical findings of tall stature due to postnatal overgrowth, intellectual disability, and characteristic facial features, are the most consistent findings observed in patients with Tatton-Brown-Rahman syndrome (TBRS). Since the syndrome was first described in 2014, an expanding...

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Identifiers

PMID: 34644003
DOI: 10.1002/ajmg.a.62541
PMCID: PMC9175539

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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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