Browsing Centre for Endocrinology by Subject "HMGA2 Protein"

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    • Characterization of HMGA2 variants expands the spectrum of Silver-Russell syndrome. 

      Maharaj, AV; Cottrell, E; Thanasupawat, T; Joustra, SD; Triggs-Raine, B; Fujimoto, M; Kant, SG; van der Kaay, D; Clement-de Boers, A; Brooks, AS (American Society for Clinical Investigation, 2024-03-22)
      Silver-Russell syndrome (SRS) is a heterogeneous disorder characterized by intrauterine and postnatal growth retardation. HMGA2 variants are a rare cause of SRS and its functional role in human linear growth is unclear. ...