Novel and Recurrent KIF21A Mutations in Congenital Fibrosis of the Extraocular Muscles Type 1 and 3

OBJECTIVE To characterize the disease-causing mutations and associated clinical phenotypes in 5 Chinese families with congenital fibrosis of the extraocular muscles (CFEOM). METHODS Ophthalmic investigations included visual acuity, levator function, documentation of compensatory head position, ocula...

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