Last Updated
：2025/11/30
Jansen's metaphyseal chondrodysplasia
Proper noun
Japanese Meaning
リガンドに依存しない方式1型副甲状腺ホルモン受容体の活性化により、様々な身体異常を引き起こす、非常に稀な遺伝性疾患
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A very rare disease resulting from ligand-independent activation of the type 1 parathyroid hormone receptor, leading to various physical abnormalities.
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Jansen's metaphyseal chondrodysplasia
Researchers studying Jansen's metaphyseal chondrodysplasia discovered a novel mutation that causes ligand-independent activation of the type 1 parathyroid hormone receptor.
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Researchers studying Jansen's metaphyseal chondrodysplasia discovered a novel mutation that causes ligand-independent activation of the type 1 parathyroid hormone receptor.
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