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Genotype-Phenotype of Isolated Foveal Hypoplasia in a Large Cohort: Minor Iris Changes as an Indicator ofPAX6Involvement
Author(s) -
Yi Jiang,
Shiqiang Li,
Xueshan Xiao,
Wenmin Sun,
Qingjiong Zhang
Publication year - 2021
Publication title -
investigative ophthalmology and visual science
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.935
H-Index - 218
eISSN - 1552-5783
pISSN - 0146-0404
DOI - 10.1167/iovs.62.10.23
Subject(s) - pax6 , aniridia , missense mutation , genetics , hypoplasia , nystagmus , phenotype , biology , gene , medicine , audiology , anatomy , transcription factor