Chunli Chen, Sitong Guo, Zhiqin Huang, Tao Fu, Libin Jiang, Fred Kuanfu Chen
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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...
期刊介绍:
Ophthalmic Genetics accepts original papers, review articles and short communications on the clinical and molecular genetic aspects of ocular diseases.