TY - JOUR
T1 - Genetic defects of the growth hormone-insulin-like growth factor axis
AU - López-Bermejo, Abel
AU - Buckway, Caroline K.
AU - Rosenfeld, Ron G.
N1 - Funding Information:
A. López-Bermejo is a recipient of Grants 97/5309 and 98/9198 from the Fondo de Investigación Sanitaria, Spain, and is supported by a Fellow Research Funding Grant from Eli Lilly and Company. R.G. Rosenfeld is supported by NIH Grants CA-58110 and DK-51513.
PY - 2000/3/1
Y1 - 2000/3/1
N2 - Our understanding of the physiology of the growth hormone-insulin-like growth factor (GH-IGF) axis has been characterized by remarkable advances in the past decade, with clarification of genetic defects in the development of somatotropes, GH secretion and action, and IGF synthesis and action. Combined efforts of research in this area and the development of animal models of growth retardation have also indicated new genetic abnormalities that might prove to cause short stature in humans. Genetic defects, both established and hypothetical, are reviewed, and a pragmatic clinical approach to the genetic investigation of short-statured patients is presented.
AB - Our understanding of the physiology of the growth hormone-insulin-like growth factor (GH-IGF) axis has been characterized by remarkable advances in the past decade, with clarification of genetic defects in the development of somatotropes, GH secretion and action, and IGF synthesis and action. Combined efforts of research in this area and the development of animal models of growth retardation have also indicated new genetic abnormalities that might prove to cause short stature in humans. Genetic defects, both established and hypothetical, are reviewed, and a pragmatic clinical approach to the genetic investigation of short-statured patients is presented.
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U2 - 10.1016/S1043-2760(99)00226-X
DO - 10.1016/S1043-2760(99)00226-X
M3 - Review article
C2 - 10675889
AN - SCOPUS:0034160094
SN - 1043-2760
VL - 11
SP - 39
EP - 49
JO - Trends in Endocrinology and Metabolism
JF - Trends in Endocrinology and Metabolism
IS - 2
ER -