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Updated: Jul 5, 2025

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与ADAMTS18相关的前部段异位错误地被认为是阿克森菲尔德-里格综合征

Arif O Khan1,2

  • 1Eye Institute, Cleveland Clinic Abu Dhabi, Abu Dhabi, UAE.

Taiwan journal of ophthalmology
|January 22, 2024
PubMed
概括

阿克森菲尔德-里格频谱障碍通常是由FOXC1或PITX2.2中的基因变异引起的. 带有近视性胆管缩的小角膜,一个明显的前段异构,是ADAMTS18基因变异的结果.

关键词:
亚当斯18 亚当斯18阿克森菲尔德里格尔频谱微角膜与近视性胆管关节退行症.

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