Article

Discovery of New Mutation Sites of KIF21A Gene in Chinese Patients with Congenital Fibrosis of the Extraocular Muscles

2020-05-27

Abstract excerpt

<title>Abstract</title> <p><bold>Background </bold>Congenital fibrosis of the extraocular muscles (CFEOM) is a rare hereditary nonprogressive disorder characterized by bilateral ptosis, which shows severely limited ocular motility. We reported a new mutation site of KIF21A gene in a Chinese family with congenital fibrosis of the extraocular muscles type 1 (CFEOM1).<bold>Methods </bold>A retrospective study of cas...

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Literature Corpus work: af9cf52e-3e6d-5771-8ea6-0d1fee7ca66a
DOI: 10.21203/rs.3.rs-28924/v1

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