Genetics of the anterior segment dysgenesis
TAIWAN JOURNAL OF OPHTHALMOLOGY(2023)
摘要
The anterior segment dysgeneses are a broad group of heterogeneous disorders characterized by developmental abnormalities of the anterior segment of the eye, including primary congenital aphakia, Peters sequence, aniridia, and Axenfeld-Rieger spectrum. These conditions can have overlapping phenotypes and both genotypic and phenotypic heterogeneity. This article provides a strategy for both phenotyping and then genotyping using a targeted stepwise approach.
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关键词
Anterior segment mesenchymal dysgenesis,cornea,lens
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