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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Detalhes bibliográficos
Main Authors: Moscovich, Mariana, LeDoux, Mark S, Xiao, Jianfeng, Rampon, Garrett L, Vemula, Satya R, Rodriguez, Ramon L, Foote, Kelly D, Okun, Michael S
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2013
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3722009/
https://ncbi.nlm.nih.gov/pubmed/23849371
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-14-70
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