Oculodentodigital Dysplasia Presenting as Spastic Paraparesis: The First Genetically Confirmed Korean Case and a Literature Review
Oculodentodigital dysplasia (ODDD) is a rare autosomal dominant inherited disease caused by mutations of the human gap junction alpha 1 gene, which encodes the protein Connexin-43. Patients with ODDD may present with neurological deficits with a typical pleiotropic combination of characteristic cran...
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| Principais autores: | , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Korean Movement Disorder Society
2017-09-01
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| coleção: | Journal of Movement Disorders |
| Assuntos: | |
| Acesso em linha: | http://www.e-jmd.org/upload/jmd-17050.pdf |
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