Zoekresultaten - Simran Samra, MSc

  • Toon 1 - 1 resultaten van 1
Verfijn jouw resultaten
  1. 1
    STAT6 gain-of-function disease: p.D519N is a new disease-causing variant that responds well to dupilumab treatment

    STAT6 gain-of-function disease: p.D519N is a new disease-causing variant that responds well to dupilumab treatment door Simran Samra, MSc, Eleanor Cook, MBBS, Jessica Wilson, APRN, Mehul Sharma, PhD, Liam Golding, MSc, David T. Yao, BSc, Rebecca A. Marsh, MD, Stuart E. Turvey, MBBS, DPhil

    Gepubliceerd in 2025-08-01

    This case report presents a new genetic variant that causes STAT6 gain-of-function disease in 2 patients, expands the clinical phenotype of STAT6 gain-of-function disease, and describes its authors’ success in using therapeutics to manage this rare disease.

    Volledige tekst
    Artikel

    Toevoegen aan favorieten
    Bewaard in:

Zoekinstrumenten: