Article
Clinical, biochemical, and molecular investigations of a genetic isolate of growth hormone insensitivity (Laron's syndrome).
The Journal of clinical endocrinology and metabolism - 1 Feb 1997
Baumbach L, Schiavi A, Bartlett R, Perera E, Day J, Brown M R, Stein S, Eidson M, Parks J S, Cleveland W
Abstract excerpt
We have characterized the GH receptor mutation that is responsible for extreme short stature and GH insensitivity in a Bahamian genetic isolate. Heights of affected individuals ranged from -4.0 to -6.3 SD. Like others with Laron's syndrome, they had normal to high serum GH concentrations and low serum insulin-like growth factor I concentrations. Circulating levels of GH-binding protein activity were below limits...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.