Article

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

2020-04-06

Abstract excerpt

<h4>Background: </h4> Congenital fibrosis of the extraocular muscles (CFEOM) is a rare hereditary nonprogressive disorder characterized by bilateral ptosis, with severely limited ocular motility. We report a new mutation site of KIF21A gene in a Chinese family with congenital fibrosis of the extraocular muscles type 1 (CFEOM1). Methods We conducted a retrospective study of case series. Standard ocular examinations...

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Literature Corpus work: c8d2e40c-59a8-53aa-9ac4-d1fe4ab295ad
DOI: 10.21203/rs.3.rs-20980/v1

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