Precision treatment of Singleton Merten syndrome with ruxolitinib: a case report.
Philip J BroserUrsula von MengershausenKatrin HeldtDeborah BartholdiDominique BraunChristine WolfMin Ae Lee-KirschPublished in: Pediatric rheumatology online journal (2022)
JAK inhibition represents a valuable therapeutic option for patients with SGMRT1. Our findings also highlight the potential of a patient-tailored therapeutic approach based on pathogenetic insight.