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Article

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

8 Jan 2020

Abstract excerpt

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 with lethal Stüve-Wiedemann-like syndrome characterized by skeletal dysplasia and neonatal lung dysfunction with...

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PMID: 31914175
DOI: 10.1084/jem.20191306

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