Dystonia, facial dysmorphism, intellectual disability and breast cancer associated with a chromosome 13q34 duplication and overexpression of TFDP1: case report.
第一作者:
Mariana,Moscovich
作者:
医学主题词
畸形, 多发性(Abnormalities, Multiple);成年人(Adult);乳腺肿瘤(Breast Neoplasms);染色体重复(Chromosome Duplication);染色体, 人, 13对(Chromosomes, Human, Pair 13);颅面骨畸形(Craniofacial Abnormalities);发育障碍(Developmental Disabilities);张力失调(Dystonia);面容(Facies);女(雌)性(Female);基因表达调控(Gene Expression Regulation);人类(Humans);肌萎缩(Muscular Atrophy);寡核苷酸序列分析(Oligonucleotide Array Sequence Analysis);精神病(Psychotic Disorders);转录因子DP1(Transcription Factor DP1)
DOI
10.1186/1471-2350-14-70
PMID
23849371
发布时间
2021-10-21
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