Last Updated:2025/11/29

The patient was diagnosed with Bloom-Torre-Machacek syndrome after genetic testing revealed characteristic markers.

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The patient was diagnosed with Bloom-Torre-Machacek syndrome after genetic testing revealed characteristic markers.

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遺伝子検査で特徴的なマーカーが明らかになり、その患者はブルーム症候群と診断されました。

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