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Delineation of the adult phenotype of Coffin–Siris syndrome in 35 individuals

Ariane Schmetz, Hermann‐Josef Lüdecke, Harald Surowy, Sugirtahn Sivalingam, Ange-Line Bruel, Roseline Caumes, Perrine Charles, Nicolas Chatron, Krystyńa Chrzańowska, Marta Codina‐Solà, Cindy Colson, Ivon Cuscó, Anne‐Sophie Denommé‐Pichon, Patrick Edery, Laurence Faivre, Andrew Green, Solveig Heide, Tzung‐Chien Hsieh, Alexander Hustinx, Lotte Kleinendorst, Cordula Knopp, Florian Kraft, Peter Krawitz, Amaia Lasa‐Aranzasti, Gaëtan Lesca, Vanesa López‐González, Julien Maraval, Cyril Mignot, Teresa Neuhann, Christian Netzer, Barbara Oehl‐Jaschkowitz, Florence Petit, Christophe Philippe, Renata Posmyk, Audrey Putoux, André Reis, María José Sánchez-Soler, Julia Suh, Tinatin Tkemaladze, Frédéric Tran Mau‐Them, André Travessa, Laura Trujillano, Irene Valenzuela, Mieke M. van Haelst, Georgia Vasileiou, Catherine Vincent‐Delorme, Mona Walther, Pablo Emilio Verde, Nuria C. Bramswig, Dagmar Wieczorek

2023Human Genetics25 citationsDOIOpen Access PDF

Topics & Concepts

SMARCB1Intellectual disabilityCohortBiologyPhenotypeWilliams syndromeHuman geneticsGeneticsCognitionInternal medicineMedicineGeneNeuroscienceChromatin remodelingChromatinChromatin Remodeling and CancerProtein Degradation and InhibitorsGenomics and Chromatin Dynamics