换一批PNPLA6基因变异导致的Oliver-McFarlane综合征1例
A case of Oliver-McFarlane syndrome caused by PNPLA6 gene mutation
摘要Oliver-McFarlane综合征是一种罕见的遗传病，以长睫毛、脉络膜视网膜萎缩和多种垂体激素缺乏为特征性改变。本例患者女性，29岁，自幼夜盲、视力低下、长睫毛，经基因测序检出PNPLA6基因复合杂合变异，综合临床表现诊断为Oliver-McFarlane综合征。
更多相关知识
abstractsOliver-McFarlane syndrome is a rare genetic disorder characterized by long eyelashes, choroidoretinal atrophy, and multiple pituitary hormone deficiencies. The patient in this case is a 29-year-old female who has suffered from night blindness, low vision, and long eyelashes since childhood. Through genetic sequencing, she was diagnosed with compound heterozygous variaton in the PNPLA6 gene, indicating Oliver-McFarlane syndrome based on her comprehensive clinical presentation.
More相关知识
关键词
发育障碍色素性视网膜炎酰基转移酶类磷脂酶类遗传变异Developmental disabilitiesRetinitis pigmentosaAcyltransferasesPhospholipasesGenetic variation
栏目名称
DOI
10.3760/cma.j.cn112142-20220627-00316
发布时间
2026-01-13（万方平台首次上网日期，不代表论文的发表时间）
- 浏览85
- 被引0
- 下载4
相似文献
- 中文期刊
- 外文期刊
- 学位论文
- 会议论文
