Browsing Centre for Endocrinology by Author "Vairamani, K"
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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, P; Rosenfeld, RG (2017) -
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 ...