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A Novel 4.25kb Deletion in PAX6 in A Chinese Han Family with Congenital Aniridia Combined with Cataract and Nystagmus

2021-03-15

Abstract excerpt

<h4>Background: </h4> The aim of this study is to identify the genetic defect in a Chinese family with congenital aniridia combined with cataract and nystagmus. <h4>Methods: </h4>: Complete ophthalmic examinations, including slit-lamp biomicroscopy, dilatedindirect ophthalmoscopy, anterior segment photography, and anterior segment optical coherence tomography (OCT) were performed. Blood samples were collected from...

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Literature Corpus work
8a747962-94d0-54f7-a7e5-987b0b773622
DOI
10.21203/rs.3.rs-270762/v1
Open publication

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A Novel 4.25kb Deletion in PAX6 in A Chinese Han Family with Congenital Aniridia Combined with Cataract and NystagmusDOI 10.21203/rs.3.rs-270762/v1
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