Browsing Centre for Endocrinology by Author "Backeljauw, PF"
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The continuum between GH deficiency and GH insensitivity in children
Savage, MO; Storr, HL; Backeljauw, PF (Springer Nature, 2020-10-06)The continuum of growth hormone (GH)-IGF-I axis defects extends from severe to mild GH deficiency, through short stature disorders of undefined aetiology, to GH insensitivity disorders which can also be mild or severe. ... -
Non-classical growth hormone insensitivity (GHI): characterization of mild abnormalities of GH action.
Storr, HL; Chatterjee, S; Metherell, LA; Foley, C; Rosenfeld, RG; Backeljauw, PF; Dauber, A; Savage, MO; Hwa, V (2018-09-27)GH insensitivity (GHI) presents in childhood with growth failure and in its severe form is associated with extreme short stature, dysmorphic and metabolic abnormalities. In recent years, the clinical, biochemical and genetic ... -
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 ...