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Patients received standard GH therapy with a subcutaneous recombinant growth hormone injection (Genotropin, Pfizer, USA, or Norditropin, Novo Nordisk, Denmark)

10.1038/nature14344 29 JonesJ

Functional studies demonstrate that pathogenic E50K mutation in OPTN increases RGC susceptibility to cell death, which can be rescued by the TBK1 inhibitor Amlexanox [235]