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Updated: Jul 7, 2025

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在2p11.2-p12微删除综合征中扩展基因型/表型相关性

Alessandra Ferrario1, Nijas Aliu2, Claudine Rieubland2

  • 1Department of Ophthalmology, Inselspital, Bern University Hospital, University of Bern, 3010 Bern, Switzerland.

Genes
|December 23, 2023
PubMed
概括

一种罕见的2p11.2-p12微删除综合征导致发育迟缓,智力障碍以及明显的面部和耳朵异常. 这项研究详细介绍了一个新的病例,并审查了类似的遗传条件.

关键词:
埃尔莫德3是什么意思这就是FOXI3的原因.在Polr1A中使用.在REEP1中,REEP1是REEP1.染色体2 染色体2 是一个出生在耳朵中的异常.面部形 面部形 面部形微切除微切除的方法神经发育障碍是一种神经发育障碍.

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