Mosaic <i>IL6ST</i> variant inducing constitutive GP130 cytokine receptor signaling as a cause of neonatal onset immunodeficiency with autoinflammation and dysmorphy
Anna Materna‐Kiryluk(Poznan University of Medical Sciences), Rafał Płoski(Medical University of Warsaw), Jolanta Skalska‐Sadowska(Poznan University of Medical Sciences), Piotr Gasperowicz(Medical University of Warsaw), Barbara Pietrucha(Children's Memorial Health Institute), Zuzanna Rydzyńska(Medical University of Warsaw), Piotr Stawiński(Medical University of Warsaw), Božena Cukrowská(Children's Memorial Health Institute), Anna Sosnowska(Medical University of Warsaw), Dariusz Śladowski(Medical University of Warsaw), Dominika Nowis(Medical University of Warsaw), Agnieszka Pollak(Institute of Physiology and Pathology of Hearing), Marek Niedziela(Poznan University of Medical Sciences), Karol Gawalski(Medical University of Warsaw), Tomasz M. Grzywa(Children's Hospital of Philadelphia), Aleksandra Szczawińska-Popłonyk(Poznan University of Medical Sciences), Magdalena Banaszak-Ziemska(Poznan University of Medical Sciences), Ewa Konopka(Children's Memorial Health Institute)
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