PHENOTYPIC SPECTRUM AND RESPONSES TO RECOMBINANT HUMAN IGF1 (rhIGF1) THERAPY IN PATIENTS WITH HOMOZYGOUS INTRONIC PSEUDOEXON GROWTH HORMONE RECEPTOR MUTATION.

CONCLUSION: In addition to phenotypic heterogeneity in the cohort, there was mismatch between clinical and biochemical features in individual patients with 6Ψ GHR mutations. rhIGF1 treatment improved height outcomes. PMID: 29500309 [PubMed - as supplied by publisher]

https://www.ncbi.nlm.nih.gov/pubmed/29500309?dopt=Abstract

Source: European Journal of Endocrinology - March 2, 2018 Category: Endocrinology Authors: Chatterjee S, Shapiro L, Rose SJ, Mushtaq T, Clayton PE, Ten S, Bhangoo A, Kumbattae U, Dias R, Savage MO, Metherell LA, Storr HL Tags: Eur J Endocrinol Source Type: research