Article
Growth hormone receptor variant (L526I) modifies plasma HDL cholesterol phenotype in familial hypercholesterolemia: intra-familial association study in an eight-generation hyperlipidemic kindred.
American journal of medical genetics. Part A - 30 Aug 2003
Takada Daisuke, Ezura Yoichi, Ono Shuji, Iino Yasuhiko, Katayama Yasuo, Xin Yuanpei, Wu Lily L, Larringa-Shum Stacey, Stephenson Susan H, Hunt Steven C, Hopkins Paul N, Emi Mitsuru
Abstract excerpt
Defect of growth hormone receptor (GHR) is classically known to cause Laron syndrome, characterized by short stature, specific facial appearance, elevated serum growth hormone levels, and decreased insulin-like growth factor I levels. In addition, an increased cardiovascular risk due to elevated plasma total and LDL cholesterol levels marks another feature of the disease. Growth hormone (GH) plays an important...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.