Article
DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.
American journal of human genetics - 6 Feb 2025
Lessel Ivana, Baresic Anja, Chinn Ivan K, May Jonathan, Goenka Anu, Chandler Kate E, Posey Jennifer E, Afenjar Alexandra, Averdunk Luisa, Bedeschi Maria Francesca, Besnard Thomas, Brager Rae, Brick Lauren, Brugger Melanie, Brunet Theresa, Byrne Susan, Calle-Martín Oscar de la, Capra Valeria, Cardenas Paul, Chappé Céline, Chong Hey J, Cogne Benjamin, Conboy Erin, Cope Heidi, Courtin Thomas, Deb Wallid, Dilena Robertino, Dubourg Christèle, Elgizouli Magdeldin, Fernandes Erica, Fitzgerald Kristi K, Gangi Silvana, George-Abraham Jaya K, Gucsavas-Calikoglu Muge, Haack Tobias B, Hadonou Medard, Hanker Britta, Hüning Irina, Iascone Maria, Isidor Bertrand, Järvelä Irma, Jin Jay J, Jorge Alexander A L, Josifova Dragana, Kalinauskiene Ruta, Kamsteeg Erik-Jan, Keren Boris, Kessler Elena, Kölbel Heike, Kozenko Mariya, Kubisch Christian, Kuechler Alma, Leal Suzanne M, Leppälä Juha, Luu Sharon M, Lyon Gholson J, Madan-Khetarpal Suneeta, Mancardi Margherita, Marchi Elaine, Mehta Lakshmi, Menendez Beatriz, Morel Chantal F, Harasink Sue Moyer, Nevay Dayna-Lynn, Nigro Vincenzo, Odent Sylvie, Oegema Renske, Pappas John, Pastore Matthew T, Perilla-Young Yezmin, Platzer Konrad, Powell-Hamilton Nina, Rabin Rachel, Rekab Aisha, Rezende Raissa C, Robert Leema, Romano Ferruccio, Scala Marcello, Poths Karin, Schrauwen Isabelle, Sebastian Jessica, Short John, Sidlow Richard, Sullivan Jennifer, Szakszon Katalin, Tan Queenie K G, Wagner Matias, Wieczorek Dagmar, Yuan Bo, Maeding Nicole, Strunk Dirk, Begtrup Amber, Banka Siddharth, Lupski James R, Tolosa Eva, Lessel Davor
Abstract excerpt
BCL11B is a Cys2-His2 zinc-finger (C2H2-ZnF) domain-containing, DNA-binding, transcription factor with established roles in the development of various organs and tissues, primarily the immune and nervous systems. BCL11B germline variants have been associated with a variety of developmental syndromes. However, genotype-phenotype correlations along with pathophysiologic mechanisms of selected variants mostly remain...