Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome

Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome

The gene IL6ST encodes GP130, the common signal transducer of the IL-6 cytokine family consisting of 10 cytokines. Previous studies have identified cytokine-selective IL6ST defects that preserve LIF signaling. We describe three unrelated families with at least five affected individuals who presented...

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Bibliographic Details
Main Authors: Chen, Y, Grigelioniene, G, Newton, P, Gullander, J, Elfving, M, Hammarsjö, A, Batkovskyte, D, Alsaif, H, Kurdi, W, Abdulwahab, F, Shanmugasundaram, V, Devey, L, Bacrot, S, Brodszki, J, Huber, C, Hamel, B, Gisselsson, D, Papadogiannakis, N, Jedrycha, K, Gürtl-Lackner, B, Chagin, A, Nishimura, G, Aschenbrenner, D, Alkuraya, F, Laurence, A, Cormier-Daire, V, Uhlig, H
Format: Journal article
Language:English
Published: Rockefeller University Press 2020

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