摘要 : Cornelia de Lange syndrome (CdLS) is a rare multiorgan developmental disorder caused by pathogenic variants in cohesin genes. It is a genetically and clinically heterogeneous dominant (both autosomal and X-linked) rare disease. In... 展开
作者 | Pallotta~ Maria M. Di Nardo~ Maddalena Sarogni~ Patrizia Krantz~ Ian D. Musio~ Antonio |
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作者单位 | |
期刊名称 | 《Human Molecular Genetics》 |
总页数 | 11 |
语种/中图分类号 | 英语 / R394 |
关键词 | DE-LANGE-SYNDROME DOUBLE-STRAND BREAKS COHESIN COMPLEX DNA-DAMAGE MUTATIONS CAUSE GENETIC-HETEROGENEITY CORNELIA SMC1A INSTABILITY EXPRESSION |
馆藏号 | N2007EPST0000828 |