Precision treatment of singleton merten syndrome with ruxolitinib: a case report

HIGHLIGHTS

  • who: Philip Broser from the (UNIVERSITY) have published the article: Precision treatment of Singleton Merten syndrome with ruxolitinib: a case report, in the Journal: (JOURNAL)
  • what: The authors report the case of a child with SGMRT1, in whom treatment with the JAK inhibitor ruxolitinib led to sustained clinical improvement. The authors report on a male patient who was born at term after an uncomplicated pregnancy to non-consanguineous parents.

SUMMARY

    MDA5 recognizes viral double-stranded RNA (dsRNA) in the cytosol and upon ligand binding activates antiviral type I interferon-(IFN) signaling . . .

     

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