A novel missense mutation in the SH2 domain of the STAT5b gene results in a transcriptionally inactive STAT5b associated with severe IGF-I deficiency, immune dysfunction, and lack of pulmonary disease

Paula A. Scaglia, Alicia S. Martínez, Eva Feigerlová, Liliana Bezrodnik, María Isabel Gaillard, Daniela Di Giovanni, María Gabriela Ballerini, Héctor G. Jasper, Juan J. Heinrich, Peng Fang, Horacio M. Domené, Ron G. Rosenfeld, Vivian Hwa

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