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Genetic defects of the human somatotropic axis 

Genetic defects of the human somatotropic axis
Genetic defects of the human somatotropic axis

Louise A. Metherell

, Helen L. Storr

, and Martin O. Savage

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date: 26 May 2022

Linear growth is controlled by complex interactions between genetic and environmental factors. Our understanding of the endocrine physiology of growth has been revolutionized over the last 20 years by the field of molecular genetics, which has identified many genes involved in inherited human growth disorders.

Genetic defects in the human somatotropic axis will be presented and are classified as those associated with:

multiple anterior pituitary hormone deficiencies

isolated growth hormone deficiency

growth hormone resistance syndromes

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