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Updated: Jan 14, 2026

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在BICRA基因的一个新型变体,扩大表型:一个案例报告

Catherine Kentros1, Wendy K Chung2, Mythily Ganapathi3

  • 1Department of Medical Genetics, Columbia University Medical Center, New York, New York, USA.

Case reports in genetics
|October 24, 2025
PubMed
概括

这项研究详细介绍了一种罕见的BICRA基因变异,该变异发生在被诊断患有Coffin-Siris综合征12 (CSS-12) 的最年长患者身上. 这些发现扩大了对遗传性疾病的理解.

关键词:
比克拉比克拉是什么意思棺材 西里斯综合征 12行为障碍是一种行为障碍.双极型的双极型是双极型的.发育延迟的发展延迟.智力障碍 智力障碍是一种智力障碍.微头症是一个微头症.精神疾病是一种精神疾病.精神分裂情绪障碍 精神分裂情绪障碍

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