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...

תיאור מלא

שמור ב:
מידע ביבליוגרפי
Main Authors: Moscovich, Mariana, LeDoux, Mark S, Xiao, Jianfeng, Rampon, Garrett L, Vemula, Satya R, Rodriguez, Ramon L, Foote, Kelly D, Okun, Michael S
פורמט: Artigo
שפה:Inglês
יצא לאור: BioMed Central 2013
נושאים:
Case Report
גישה מקוונת: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
תגים: הוספת תג
אין תגיות, היה/י הראשונ/ה לתייג את הרשומה!

פריטים דומים