大脑小,智力发育障碍和失衡综合征-2:一个病例报告

Livia Hochman1, Alrick Drummond2, Kara Morgan3

  • 1Medicine, Florida State University College of Medicine, Tallahassee, USA.

Cureus
|February 27, 2025
PubMed
概括

在WDR81基因的致病变体导致小脑缩,智力障碍和失衡综合征-2 (CAMRQ2). 这一案例扩大了已知的临床范围,强调了对罕见疾病的代遗传测试.

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