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

BMC Medical Genetics

Volumn 14, Issue 1, 2013, Pages

  Moscovich, Mariana ^a   LeDoux, Mark S ^b   Xiao, Jianfeng ^b   Rampon, Garrett L ^b   Vemula, Satya R ^b   Rodriguez, Ramon L ^a   Foote, Kelly D ^a   Okun, Michael S ^a  

^a UNIVERSITY OF FLORIDA COLLEGE OF MEDICINE   (United States)

^b UNIVERSITY OF TENNESSEE HEALTH SCIENCE CENTER   (United States)

Author keywords

Breast cancer; Chromosome 13q34; Duplication; Dystonia; G1 S Checkpoint pathway; TFDP1

Indexed keywords

LONG UNTRANSLATED RNA; TRANSCRIPTION FACTOR DP1;

ADULT; ARACHNODACTYLY; ARTICLE; AUDITORY HALLUCINATION; AUTOSOME; BLEPHAROSPASM; BRAIN DEPTH STIMULATION; BREAST CANCER; CASE REPORT; CERVICAL DYSTONIA; CESAREAN SECTION; CHROMOSOME ANALYSIS; CHROMOSOME DUPLICATION; CONTROLLED STUDY; DISEASE ASSOCIATION; DYSTONIA; EXOME; EXON; FACE DYSMORPHIA; FEMALE; GENE OVEREXPRESSION; GLOBUS PALLIDUS; HIRSUTISM; HISPANIC; HUMAN; HYPERTELORISM; IMPLANTABLE PULSE GENERATOR; INTELLECTUAL IMPAIRMENT; INTRON; LONG TERMINAL REPEAT; MARFAN SYNDROME; MICROGNATHIA; MUSCLE STRENGTH; NUCLEAR MAGNETIC RESONANCE IMAGING; PALPEBRAL FISSURE; PERCUTANEOUS ENDOSCOPIC GASTROSTOMY; POLYMERASE CHAIN REACTION; SCOLIOSIS; SINGLE PHOTON EMISSION COMPUTER TOMOGRAPHY; SPEECH ARTICULATION; TALL STATURE; VISUAL HALLUCINATION; WALKING DIFFICULTY;

ABNORMALITIES, MULTIPLE; ADULT; BREAST NEOPLASMS; CHROMOSOME DUPLICATION; CHROMOSOMES, HUMAN, PAIR 13; DEVELOPMENTAL DISABILITIES; DYSTONIA; FACIES; FEMALE; GENE EXPRESSION REGULATION; HUMANS; INTELLECTUAL DISABILITY; MUSCULAR ATROPHY; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PSYCHOTIC DISORDERS; TRANSCRIPTION FACTOR DP1;

EID: 84880101376     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-14-70     Document Type: Article

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