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一种严重的神经认知表型,由两个兄弟姐妹的双性CHD3变体引起

Racheli Goldfarb Yaacobi1, Rivka Sukenik Halevy1,2

  • 1Genetics Institute, Meir Medical Center, Kfar Saba, Israel.

American journal of medical genetics. Part A
|December 20, 2023
PubMed
概括

双性CHD3变体导致严重的神经发育综合征,与Snijders Blok-Campeau综合征不同. 这一发现扩大了对CHD3相关疾病及其遗传基础的理解.

关键词:
CHD3 CHD3 是一个不同形态的异形主义.同性异质的 同性异质的 同性异质的现象型 现象型 是一种现象型.严重的智力障碍 严重的智力障碍

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