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Browsing Center for Genomic Regulation (CRG) by Author "Gagneur, Julien"

Browsing Center for Genomic Regulation (CRG) by Author "Gagneur, Julien"

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  • Somatic alterations compromised molecular diagnosis of DOCK8 hyper-IgE syndrome caused by a novel intronic splice site mutation
    Hagl, Beate; Spielberger, Benedikt D.; Thoene, Silvia; Bonnal, Sophie; Mertes, Christian; Winter, Christof; Nijman, Isaac J.; Verduin, Shira; Eberherr, Andreas C.; Puel, Anne; Schindler, Detlev; Ruland, Jürgen; Meitinger, Thomas; Gagneur, Julien; Orange, Jordan S.; van Gijn, Marielle E.; Renner, Ellen D. (Nature Research, 2018)
    In hyper-IgE syndromes (HIES), a group of primary immunodeficiencies clinically overlapping with atopic dermatitis, early diagnosis is crucial to initiate appropriate therapy and prevent irreversible complications. ...

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