Article
Relationship between phenotype and genotype in growth hormone insensitivity syndrome.
Acta paediatrica (Oslo, Norway : 1992). Supplement - 1 Feb 1999
Woods K A, Clark A J, Amselem S, Savage M O
Abstract excerpt
Growth hormone insensitivity syndrome (GHIS) of genetic origin is associated with many different mutations of the growth hormone receptor (GHR) gene and a recently described genetic defect of the insulin-like growth factor I (IGF-I) gene. Phenotypic and biochemical features were examined in a cohort of 82 patients with GHIS from 23 countries. The mean age of these patients was 8.3 years, their mean height SDS was...
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