Brittle Cornea Syndrome: Molecular Diagnosis and Management

<b>Background and Clinical Significance:</b> Brittle cornea syndrome (BCS) is a rare, autosomal recessive connective tissue disorder characterized by extreme corneal thinning, high myopia, and increased risk of spontaneous or trauma-induced ocular rupture. It is primarily caused by mutations in the...

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書誌詳細

主要な著者:	Marco Zeppieri, Mattia Gentile, Antonio Acquaviva, Davide Scollo, Fabiana D’Esposito, Giuseppe Gagliano, Alessandro Avitabile, Caterina Gagliano, Lucia Lapenna
フォーマット:	Artigo
言語:	Inglês
出版事項:	MDPI AG 2025-06-01
シリーズ:	Diagnostics
主題:	keratoglobus genetic corneal disease PRDM5 gene irregular astigmatism central corneal thinning pachymetry
オンライン･アクセス:	https://www.mdpi.com/2075-4418/15/13/1596
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