Dystonia, facial dysmorphism, intellectual disability and breast cancer associated with a chromosome 13q34 duplication and overexpression of TFDP1: case report

BACKGROUND: Dystonia is a movement disorder characterized by involuntary sustained muscle contractions causing twisting and repetitive movements or abnormal postures. Some cases of primary and neurodegenerative dystonia have been associated with mutations in individual genes critical to the G(1)-S c...

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Detalles Bibliográficos
Autores principales: Moscovich, Mariana, LeDoux, Mark S, Xiao, Jianfeng, Rampon, Garrett L, Vemula, Satya R, Rodriguez, Ramon L, Foote, Kelly D, Okun, Michael S
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3722009/
https://www.ncbi.nlm.nih.gov/pubmed/23849371
http://dx.doi.org/10.1186/1471-2350-14-70

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3722009/
https://www.ncbi.nlm.nih.gov/pubmed/23849371
http://dx.doi.org/10.1186/1471-2350-14-70

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