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与CRX相关的视网膜变的临床,遗传和组织病理特征

Leo C Hahn1, Isa van der Veen2, Michalis Georgiou3

  • 1Department of Ophthalmology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands.

Ophthalmology. Retina
|August 11, 2024
PubMed
概括

与CRX基因 (CRX-RDs) 相关的遗传视网膜变症具有广泛的严重程度,从早期的失明到轻微的黄斑病变. 遗传变异和哈普洛缺陷往往与较温和,晚发性疾病相关.

关键词:
圆杆缩症 圆杆缩症 圆杆缩症圆杆同居盒基因 圆杆同居盒基因组织病理学 组织病理学斑点缩症 斑点缩症 斑点缩症自然历史研究自然历史研究.

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