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4.12 Partial growth hormone insensitivity and dysregulatory immune disease associated with de novo germline activating STAT3 mutations

M Gutiérrez , P Scaglia , A Keselman , L Martucci , L Karabatas , S Domené , A Martin , P Pennisi , M Blanco , N Sanguineti , L Bezrodnik , D Di Giovanni , MS Caldirola , ME Azcoiti , MI Gaillard , LA Denson , K Zhang , A Husami , NH Yayah Jones , V Hwa , S Revale , M Vázquez , H Jasper , A Kumar , H Domené

To read the full abstract: Mol Cell Endocrinol 2018; 15;473:166-177Signal transducers and activators of transcription (STAT) proteins are transcription factors transiently activated by different ligands such as cytokines, growth factors, or peptides, which trigger intracellular tyrosine phosphorylation along the JAK-STAT signaling pathway. Phosphorylated STAT induces...

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ESPE Yearbook of Paediatric Endocrinology

4.12 Partial growth hormone insensitivity and dysregulatory immune disease associated with de novo germline activating STAT3 mutations

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