Browsing Centre for Endocrinology by Subject "dominant-negative GHR mutations"

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    • Novel Dominant-Negative GH Receptor Mutations Expands the Spectrum of GHI and IGF-I Deficiency. 

      Vairamani, K; Merjaneh, L; Casano-Sancho, P; Sanli, ME; David, A; Metherell, LA; Savage, MO; Del Pozo, JS; Backeljauw, PF; Rosenfeld, RG (2017-04-01)
      Context: Autosomal-recessive mutations in the growth hormone receptor (GHR) are the most common causes for primary growth hormone insensitivity (GHI) syndrome with classical GHI phenotypically characterized by severe short ...