DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders

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...

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Veröffentlicht in:	American journal of human genetics 2025-01
Hauptverfasser:	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
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Sprache:	eng
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