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一名患有 48 XXYY 综合征的中国青少年眼窝发育不全

IF 1.2 4区 医学 Q4 GENETICS & HEREDITY
Ophthalmic Genetics Pub Date : 2023-12-12 DOI:10.1080/13816810.2023.2291669
Chunli Chen, Sitong Guo, Zhiqin Huang, Tao Fu, Libin Jiang, Fred Kuanfu Chen
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引用次数: 0

摘要

48XXYY综合征是一种罕见的性染色体非整倍体，具有严重的全身特征。48, XXYY 综合征的眼部表现包括肥大性斜视、上睑下垂、眼睑遮盖、斜视......
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Foveal hypoplasia in a Chinese adolescent with 48, XXYY syndrome
48, XXYY syndrome is a rare sex chromosome aneuploidy with severe systemic features. Ophthalmic manifestation of 48, XXYY syndrome include hypertelorism, epicanthic folds, hooded eye lids, strabism...
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来源期刊
Ophthalmic Genetics
Ophthalmic Genetics 医学-眼科学
CiteScore
2.40
自引率
8.30%
发文量
126
审稿时长
>12 weeks
期刊介绍： Ophthalmic Genetics accepts original papers, review articles and short communications on the clinical and molecular genetic aspects of ocular diseases.
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