Article
[GH receptor gene mutations and growth failure].
Nihon rinsho. Japanese journal of clinical medicine - 1 Jul 1998
Kaji H
Abstract excerpt
Abnormality of growth hormone (GH) receptor (GHR) and signal transduction system is a cause of primary GH insensitivity. Analysis of GHR gene have shown so far about 30 different kinds of mainly homozygous mutations in patients with Laron syndrome and heterozygous mutations in some patients with idiopathic short stature. In this paper, we review these diverse clinical and molecular characteristics of abnormal GHR...
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