Article

A Novel De Novo TUBB3 Variant Causing Developmental Delay, Epilepsy and Mild Ophthalmological Symptoms in a Chinese Child.

2021-07-07

Abstract excerpt

<title>Abstract</title> <p>Heterozygous missense mutations in <italic>TUBB3</italic> have been implicated in various neurological disorders encompassing either isolated congenital fibrosis of the extraocular muscles type 3 (CFEOM3) or complex cortical dysplasia with other brain malformations 1 (CDCBM1). The description of seizures in patients with <italic>TUBB3</italic> mutations is rare. Here, we reported a pati...

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Identifiers and source

Literature Corpus work: 48436879-cc82-561b-80fd-e065782fbc77
DOI: 10.21203/rs.3.rs-660033/v1

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