Article
Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals.
Human genetics - 1 Jan 2024
Schmetz Ariane, Lüdecke Hermann-Josef, Surowy Harald, Sivalingam Sugirtahn, Bruel Ange-Line, Caumes Roseline, Charles Perrine, Chatron Nicolas, Chrzanowska Krystyna, Codina-Solà Marta, Colson Cindy, Cuscó Ivon, Denommé-Pichon Anne-Sophie, Edery Patrick, Faivre Laurence, Green Andrew, Heide Solveig, Hsieh Tzung-Chien, Hustinx Alexander, Kleinendorst Lotte, Knopp Cordula, Kraft Florian, Krawitz Peter M, Lasa-Aranzasti Amaia, Lesca Gaetan, López-González Vanesa, Maraval Julien, Mignot Cyril, Neuhann Teresa, Netzer Christian, Oehl-Jaschkowitz Barbara, Petit Florence, Philippe Christophe, Posmyk Renata, Putoux Audrey, Reis André, Sánchez-Soler María José, Suh Julia, Tkemaladze Tinatin, Tran Mau Them Frédéric, Travessa André, Trujillano Laura, Valenzuela Irene, van Haelst Mieke M, Vasileiou Georgia, Vincent-Delorme Catherine, Walther Mona, Verde Pablo, Bramswig Nuria C, Wieczorek Dagmar
Abstract excerpt
Coffin-Siris syndrome (CSS) is a rare multisystemic autosomal dominant disorder. Since 2012, alterations in genes of the SWI/SNF complex were identified as the molecular basis of CSS, studying largely pediatric cohorts. Therefore, there is a lack of information on the phenotype in adulthood, particularly on the clinical outcome in adulthood and associated risks. In an international collaborative effort, data from...
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