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Updated: Jun 22, 2025

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小说LOXL3相关的类似stickler综合征的表型:一个案例报告

Adrianna E Klejnotowska1, Megan Higgins2, Shaheen P Shah1

  • 1Department of Ophthalmology, Queensland Children's Hospital, Brisbane, Australia.

Ophthalmic genetics
|July 3, 2024
PubMed
概括

这项研究报告了一例罕见的儿童早期高近视,形缺血症和骨发育不良症的罕见病例,原因是通过父亲单亲异位分裂性遗传的LOXL3基因变异. 这一发现扩大了已知的LOXL3相关疾病的范围.

关键词:
在LOXL3L3中使用.斯蒂克勒综合征 (Stickler Syndrome) 是一种早期发病的高近视高近视叶细胞的低成形.单亲异构症是一种单亲异构症.

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