Genetic heterogeneity in Laron syndrome

This publication has 16 references indexed in Scilit:

• Growth hormone receptor deficiency in Ecuador: clinical and biochemical phenotype in two populations
  Journal of Clinical Endocrinology & Metabolism, 1993
• Amino acid substitutions in the intracellular part of the growth hormone receptor in a patient with the Laron syndrome
  Journal of Clinical Endocrinology & Metabolism, 1993
• Human Growth Hormone and Extracellular Domain of Its Receptor: Crystal Structure of the Complex
  Science, 1992
• Mutation creating a new splice site in the growth hormone receptor genes of 37 Ecuadorean patients with Laron syndrome
  Human Mutation, 1992
• Defective membrane expression of human growth hormone (GH) receptor causes Laron-type GH insensitivity syndrome.
  Proceedings of the National Academy of Sciences, 1991
• A systematic mutational analysis of hormone-binding determinants in the human growth hormone receptor.
  Proceedings of the National Academy of Sciences, 1991
• The Little Women of Loja — Growth Hormone–Receptor Deficiency in an Inbred Population of Southern Ecuador
  New England Journal of Medicine, 1990
• Characterization of the human growth hormone receptor gene and demonstration of a partial gene deletion in two patients with Laron-type dwarfism.
  Proceedings of the National Academy of Sciences, 1989
• Growth hormone receptor and serum binding protein: purification, cloning and expression
  Nature, 1987
• Familial dwarfism with high IR-GH: Report of two affected sibs with genetic and epidemiologic considerations
  Human Genetics, 1981