Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation

Growth hormone (GH) insensitivity syndrome (GHIS) is a rare clinical condition in which production of insulin-like growth factor 1 is blunted and, consequently, postnatal growth impaired. Autosomal-recessive mutations in signal transducer and activator of transcription (STAT5B), the key signal trans...

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Publicado no:Nat Commun
Main Authors: Klammt, Jürgen, Neumann, David, Gevers, Evelien F., Andrew, Shayne F., Schwartz, I. David, Rockstroh, Denise, Colombo, Roberto, Sanchez, Marco A., Vokurkova, Doris, Kowalczyk, Julia, Metherell, Louise A., Rosenfeld, Ron G., Pfäffle, Roland, Dattani, Mehul T., Dauber, Andrew, Hwa, Vivian
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2018
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5974024/
https://ncbi.nlm.nih.gov/pubmed/29844444
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41467-018-04521-0
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