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Updated: Jan 18, 2026

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在贝克威特-维德曼频谱中的新型CDKN1C变异与非典型的并发症

Yuri Moriura1, Yosuke Nishio2,3,4, Shintaro Ichimura5,6

  • 1Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan.

Human genome variation
|May 28, 2025
PubMed
概括

贝克维特-维德曼谱 (BWSp) 是一种基因组印记障碍. 一个具有非典型特征的新病例证实了新的CDKN1C变异,扩展了BWSp概念并展示了等位基起源分析的价值.

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