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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Bibliografiska uppgifter
I publikationen:Nat Commun
Huvudupphovsmän: 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
Materialtyp: Artigo
Språk:Inglês
Publicerad: Nature Publishing Group UK 2018
Ämnen:
Article
Länkar: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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