An Autosomal Dominant TUBB3 Mutation Associated With Congenital Fibrosis of the Extraocular Muscles Type 3 in an Iranian Family
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Introduction: Congenital fibrosis of the extraocular muscles type 3 (CFEOM3) is a congenital cranial dysinnervation disorder (CCDD) marked by variable ophthalmoplegia and ptosis with considerable phenotypic heterogeneity. We repo... ...