Understanding the new BRD4-related syndrome: Clinical and genomic delineation with an international cohort study.

doi:10.1111/cge.14141

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Article

Understanding the new BRD4-related syndrome: Clinical and genomic delineation with an international cohort study.

Clinical genetics - 1 Aug 2022

Jouret Guillaume, Heide Solveig, Sorlin Arthur, Faivre Laurence, Chantot-Bastaraud Sandra, Beneteau Claire, Denis-Musquer Marie, Turnpenny Peter D, Coutton Charles, Vieville Gaëlle, Thevenon Julien, Larson Austin, Petit Florence, Boudry Elise, Smol Thomas, Delobel Bruno, Duban-Bedu Bénédicte, Fallerini Chiara, Mari Francesca, Lo Rizzo Caterina, Renieri Alessandra, Caberg Jean-Hubert, Denommé-Pichon Anne-Sophie, Tran Mau-Them Frédéric, Maystadt Isabelle, Courtin Thomas, Keren Boris, Mouthon Linda, Charles Perrine, Cuinat Silvestre, Isidor Bertrand, Theis Philippe, Müller Christian, Kulisic Marizela, Türkmen Seval, Stieber Daniel, Bourgeois Dominique, Scalais Emmanuel, Klink Barbara

Abstract excerpt

BRD4 is part of a multiprotein complex involved in loading the cohesin complex onto DNA, a fundamental process required for cohesin-mediated loop extrusion and formation of Topologically Associating Domains. Pathogenic variations in this complex have been associated with a growing number of syndromes, collectively known as cohesinopathies, the most classic being Cornelia de Lange syndrome. However, no cohort...

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PMID: 35470444
DOI: 10.1111/cge.14141

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

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