Teresa de Berardinis

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We report that eight heterozygous missense mutations in TUBB3, encoding the neuron-specific beta-tubulin isotype III, result in a spectrum of human nervous system disorders that we now call the TUBB3 syndromes. Each mutation causes the ocular motility disorder CFEOM3, whereas some also result in intellectual and behavioral impairments, facial paralysis,(More)
Congenital fibrosis of the extraocular muscle (CFEOM) syndromes are hereditary eye movement disorders characterized by restrictive paralytic ophthalmoparesis with or without ptosis [1]. Typically, pupillary function, anterior segment examination, and fundus oculi are normal. CFEOM type 1 (MIM 608283) is an autosomal dominant disorder, which maps to(More)
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