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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Detalles Bibliográficos
Autores principales: Park, Kye Won, Ryu, Ho-Sung, Kim, Juyeon, Chung, Sun Ju
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Movement Disorder Society 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5615178/
https://www.ncbi.nlm.nih.gov/pubmed/28950687
http://dx.doi.org/10.14802/jmd.17050

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5615178/
https://www.ncbi.nlm.nih.gov/pubmed/28950687
http://dx.doi.org/10.14802/jmd.17050

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