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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Détails bibliographiques
Auteurs principaux: Moscovich, Mariana, LeDoux, Mark S, Xiao, Jianfeng, Rampon, Garrett L, Vemula, Satya R, Rodriguez, Ramon L, Foote, Kelly D, Okun, Michael S
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2013
Sujets:
Case Report
Accès en ligne: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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