Article
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations.
European journal of human genetics : EJHG - 1 Mar 2025
Peron Angela, D'Arco Felice, Aldinger Kimberly A, Smith-Hicks Constance, Zweier Christiane, Gradek Gyri A, Bradbury Kimberley, Accogli Andrea, Andersen Erica F, Au Ping Yee Billie, Battini Roberta, Beleford Daniah, Bird Lynne M, Bouman Arjan, Bruel Ange-Line, Busk Øyvind Løvold, Campeau Philippe M, Capra Valeria, Carlston Colleen, Carmichael Jenny, Chassevent Anna, Clayton-Smith Jill, Bamshad Michael J, Earl Dawn L, Faivre Laurence, Philippe Christophe, Ferreira Patrick, Graul-Neumann Luitgard, Green Mary J, Haffner Darrah, Haldipur Parthiv, Hanna Suhair, Houge Gunnar, Jones Wendy D, Kraus Cornelia, Kristiansen Birgit Elisabeth, Lespinasse James, Low Karen J, Lynch Sally Ann, Maia Sofia, Mao Rong, Kalinauskiene Ruta, Melver Catherine, McDonald Kimberly, Montgomery Tara, Morleo Manuela, Motter Constance, Openshaw Amanda S, Palumbos Janice Cox, Parikh Aditi Shah, Perilla-Young Yezmin, Powell Cynthia M, Person Richard, Desai Megha, Piard Juliette, Pfundt Rolph, Scala Marcello, Serey-Gaut Margaux, Shears Deborah, Slavotinek Anne, Suri Mohnish, Turner Claire, Tvrdik Tatiana, Weiss Karin, Wentzensen Ingrid M, Zollino Marcella, Hsieh Tzung-Chien, de Vries Bert B A, Guillemot Francois, Dobyns William B, Viskochil David, Dias Cristina
Abstract excerpt
An increasing number of individuals with intellectual developmental disorder (IDD) and heterozygous variants in BCL11A are identified, yet our knowledge of manifestations and mutational spectrum is lacking. To address this, we performed detailed analysis of 42 individuals with BCL11A-related IDD (BCL11A-IDD, a.k.a. Dias-Logan syndrome) ascertained through an international collaborative network, and reviewed 35...
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