Version 1.0 last updated 18 June, 2007 contains 4 public entries |
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Short description of the STAT5Bbase : Laron syndrome is an autosomal recessive disorder characterized by marked short stature, clinical hyposomatotropism, failure to generate somatomedin, or insulin-like growth factor-1 in response to growth hormone, and normal or increased levels of growth hormone. Patients have occasionally blue sclerae and hip degeneration. Laron syndrome is caused by dysfunction of the growth hormone receptor. There are two types: type I is associated with defects in growth hormone receptor while the second, type II, is apparently due to postreceptor defects in signal transduction to produce insulin-like growth factor-1 or possibly defects in its receptor.   Our other bioinformatics services: SH2base - Database for pathogenic SH2 domain variations KinMutBase - A registry of disease-causing variations in protein kinase domains IDbases are linked to University of California Santa Cruz (UCSC) genome browser: STAT5Bbase |
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