Wieczorek, Dagmar ; Newman, William G. 
; Wieland, Thomas ; Berulava, Tea ; Kaffe, Maria ; Falkenstein, Daniela ; Beetz, Christian ; Graf, Elisabeth ; Schwarzmayr, Thomas ; Douzgou, Sofia ; Clayton-Smith, Jill ; Daly, Sarah B. ; Williams, Simon G. ; Bhaskar, Sanjeev S. ; Urquhart, Jill E. ; Anderson, Beverley ; O’Sullivan, James ; Boute, Odile ; Gundlach, Jasmin ; Czeschik, Johanna Christina ; van Essen, Anthonie J. ; Hazan, Filiz ; Park, Sarah ; Hing, Anne ; Kuechler, Alma ; Lohmann, Dietmar R. ; Ludwig, Kerstin U. ; Mangold, Elisabeth ; Steenpaß, Laura ; Zeschnigk, Michael ; Lemke, Johannes R. ; Lourenco, Charles Marques ; Hehr, Ute ; Prott, Eva-Christina ; Waldenberger, Melanie ; Böhmer, Anne C. ; Horsthemke, Bernhard ; O’Keefe, Raymond T. ; Meitinger, Thomas ; Burn, John ; Lüdecke, Hermann-Josef ; Strom, Tim M.
; Wieland, Thomas ; Berulava, Tea ; Kaffe, Maria ; Falkenstein, Daniela ; Beetz, Christian ; Graf, Elisabeth ; Schwarzmayr, Thomas ; Douzgou, Sofia ; Clayton-Smith, Jill ; Daly, Sarah B. ; Williams, Simon G. ; Bhaskar, Sanjeev S. ; Urquhart, Jill E. ; Anderson, Beverley ; O’Sullivan, James ; Boute, Odile ; Gundlach, Jasmin ; Czeschik, Johanna Christina ; van Essen, Anthonie J. ; Hazan, Filiz ; Park, Sarah ; Hing, Anne ; Kuechler, Alma ; Lohmann, Dietmar R. ; Ludwig, Kerstin U. ; Mangold, Elisabeth ; Steenpaß, Laura ; Zeschnigk, Michael ; Lemke, Johannes R. ; Lourenco, Charles Marques ; Hehr, Ute ; Prott, Eva-Christina ; Waldenberger, Melanie ; Böhmer, Anne C. ; Horsthemke, Bernhard ; O’Keefe, Raymond T. ; Meitinger, Thomas ; Burn, John ; Lüdecke, Hermann-Josef ; Strom, Tim M. 
Abstract
Mutations in components of the major spliceosome have been described in disorders with craniofacial anomalies, e.g., Nager syndrome and mandibulofacial dysostosis type Guion-Almeida. The US spliceosomal complex of eight highly conserved proteins is critical for premRNA splicing. We identified biallelic mutations in TXNL4A, a member of this complex, in individuals with Burn-McKeown syndrome ...
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