Kargapolova, Yulia 
; Rehimi, Rizwan ; Kayserili, Hülya ; Brühl, Joanna ; Sofiadis, Konstantinos ; Zirkel, Anne ; Palikyras, Spiros ; Mizi, Athanasia ; Li, Yun ; Yigit, Gökhan ; Hoischen, Alexander ; Frank, Stefan ; Russ, Nicole ; Trautwein, Jonathan ; van Bon, Bregje ; Gilissen, Christian ; Laugsch, Magdalena ; Gusmao, Eduardo Gade ; Josipovic, Natasa ; Altmüller, Janine ; Nürnberg, Peter ; Längst, Gernot ; Kaiser, Frank J. ; Watrin, Erwan ; Brunner, Han ; Rada-Iglesias, Alvaro ; Kurian, Leo ; Wollnik, Bernd ; Bouazoune, Karim ; Papantonis, Argyris
; Rehimi, Rizwan ; Kayserili, Hülya ; Brühl, Joanna ; Sofiadis, Konstantinos ; Zirkel, Anne ; Palikyras, Spiros ; Mizi, Athanasia ; Li, Yun ; Yigit, Gökhan ; Hoischen, Alexander ; Frank, Stefan ; Russ, Nicole ; Trautwein, Jonathan ; van Bon, Bregje ; Gilissen, Christian ; Laugsch, Magdalena ; Gusmao, Eduardo Gade ; Josipovic, Natasa ; Altmüller, Janine ; Nürnberg, Peter ; Längst, Gernot ; Kaiser, Frank J. ; Watrin, Erwan ; Brunner, Han ; Rada-Iglesias, Alvaro ; Kurian, Leo ; Wollnik, Bernd ; Bouazoune, Karim ; Papantonis, Argyris 
Zusammenfassung
Members of the chromodomain-helicase-DNA binding (CHD) protein family are chromatin remodelers implicated in human pathologies, with CHD6 being one of its least studied members. We discovered a de novo CHD6 missense mutation in a patient clinically presenting the rare Hallermann-Streiff syndrome (HSS). We used genome editing to generate isogenic iPSC lines and model HSS in relevant cell types. By ...
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