Signal Transducer and Activator of Transcription 5B Deficiency Due to a Novel Missense Mutation in the Coiled-Coil Domain

    Meghan Acres, Florian Gothe, Angela Grainger, Andrew Skelton, D Swan, Joseph D. P. Willet, Suzy Leech, Sonya Galcheva, Violeta Iotova, Sophie Hambleton, Karin R. Engelhardt
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    Studysummary In this study, a novel homozygous mutation in the STAT5B gene was identified in a 17-year-old boy with growth hormone-refractory growth failure, severe eczema, and autoimmune disease, suggesting a similarity to known STAT5B deficiency phenotypes.
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