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Updated: Jul 26, 2025

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在多重家族中发现的罕见变异与面腔裂:扩展表型是否有所不同?

Kimberly K Diaz Perez1, Sydney Chung1, S Taylor Head2

  • 1Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA.

American journal of medical genetics. Part A
|June 23, 2023
PubMed
概括

在带有口面裂 (OFCs) 的家族中,外体序列测定确定了罕见的遗传变异. 虽然亚临床表型假设没有得到证实,但罕见的变异有助于OFC病因学.

关键词:
外基因组测序是指外基因组的测序.多个家庭的多重家庭.面部或脸部的裂.变异分离的分离方式

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