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Figure 1 | International Journal of Pediatric Endocrinology

Figure 1

From: Towards identification of molecular mechanisms of short stature

Figure 1

Described genetic defects of the GH–IGF-1 axis associated with growth. Multiple genes of the GH–IGF-1 axis have been identified that impact growth, in the setting of both case reports with severe mutations producing a profound phenotype (filled stars) and common variants that contribute a small effect in height GWA studies (clear stars). Note that there is modest overlap in the two sets of genes, with only GH1 and IGF1R implicated in both sets. The list of single gene defects functioning at the level of the hypothalamus and pituitary that give rise to GH deficiency has been abbreviated in the figure for clarity.

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