Last Updated:2025/11/28

Researchers studying Timothy syndrome identified a specific mutation in the CACNA1C gene that helps explain the cardiac and developmental symptoms.

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Researchers studying Timothy syndrome identified a specific mutation in the CACNA1C gene that helps explain the cardiac and developmental symptoms.

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研究者たちは、身体奇形や神経・発達障害を特徴とする希少な常染色体優性疾患を研究し、心臓や発達に現れる症状を説明するのに役立つCACNA1C遺伝子の特定の変異を見つけました。

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