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浮动港综合征与胆管结肠瘤

Samantha Alanis1, M P Blair1, L M Kaufman2

  • 1Retina Consultants, Ltd, Des Plaines, Illinois, USA.

Ophthalmic genetics
|September 18, 2023
PubMed
概括

本案例报告详细介绍了第一个记录的浮动港综合征 (FHS) 与儿童双侧胆管结肠瘤相关的病例. 早期的眼科检查和基因测序证实了FHS诊断,并强调了视网膜查的重要性.

关键词:
这就是CREBBP.浮动港综合症是什么?鲁宾斯坦 - 泰比综合征废弃物 废弃物 废弃物胆管甲状腺结肠瘤 (chorioretinal coloboma) 是一种结肠瘤.

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