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  2. Kowarski syndrome

Kowarski syndrome

Definition:

Kowarski syndrome is short stature associated with bioinactive growth hormone (GH). It is clinically characterized by normal or slightly increased GH secretion, pathologically low IGF-I levels, and normal catch-up growth on GH-replacement therapy. Missense mutations in the GH1 gene leading to Kowarski syndrome have been reported.

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