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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.

生物医学辞典

生物医学辞典は、生物学の学術用語と専門データの包括的で専門的なデータベースです。すべての説明は、権威ある書籍や高いIFの文献に基づいており、知りたい生物医学用語の正確な説明を得ることができます。
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