Abstract
Many previously uncharacterized cases of poor growth in children, i.e. idiopathic short stature, are now attributable to genetic defects in the GH-IGF-1 axis. This paper will provide an overview of the clinical findings of patients identified with various genetic defects of the GH/IGF-1 axis with an emphasis on the more recently described syndromes.
Publication types
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Research Support, N.I.H., Extramural
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Research Support, U.S. Gov't, P.H.S.
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Review
MeSH terms
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Body Height / genetics*
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Child
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Growth Disorders / genetics*
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Growth Hormone / deficiency
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Growth Hormone / genetics*
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Humans
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Hypothalamo-Hypophyseal System / physiopathology
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Insulin-Like Growth Factor I / genetics*
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Receptors, Somatotropin / genetics
Substances
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Receptors, Somatotropin
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Insulin-Like Growth Factor I
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Growth Hormone