Article
Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation.
Nature communications - 29 May 2018
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
Abstract excerpt
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 transducer for GH, cause severe GHIS with additional characteristics of immune and, often fatal, pulmonary complications....
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