Article
Growth hormone receptor mutations in children with idiopathic short stature.
The Journal of clinical endocrinology and metabolism - 1 Nov 1998
Sanchez J E, Perera E, Baumbach L, Cleveland W W
Abstract excerpt
Homozygous or compound heterozygous mutations in the GH receptor (GHR) gene result in GH insensitivity syndrome. Previous reports have shown that some heterozygous mutations may induce a partial insensitivity to GH, but others appear to have limited effect on growth. To investigate further these observations, we analyzed the GHR gene in 17 subjects with idiopathic short stature (ISS). All subjects had a height 2...
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