Article

Heterozygous missense <i>RAD21</i> variant in a peripheral sclerocornea pedigree

2019-02-12

Abstract excerpt

<h4>Background</h4> Sclerocomea is a rare congenital disorder characterized with cornea opacification. We identified a heterozygous missense RAD21 variant in a non-cons anguineous Chinese family with multiple peripheral sclerocomea patients spanning across three generations inherited in an autosomal dominant manner. <h4>Methods</h4> Comprehensive ophthalmic examinations were conducted on all 14 members. Whole...

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Literature Corpus work: 17711798-6405-55ce-9856-53c57324cef9
DOI: 10.1101/547547

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