Targeted array comparative genomic hybridisation (array CGH) identifies genomic imbalances associated with isolated congenital diaphragmatic hernia (CDH)

• المؤلفون الرئيسيون: Srisupundit K., Brady P.D., Devriendt K., Fryns J., Cruz-Martinez R., Gratacos E., Deprest J.A., Vermeesch J.R.
• التنسيق: مقال
• اللغة: English
• منشور في: 2014
• الوصول للمادة أونلاين: http://www.scopus.com/inward/record.url?eid=2-s2.0-78649655581&partnerID=40&md5=d34a57c1e16ad7fbeba02313993049b8; http://cmuir.cmu.ac.th/handle/6653943832/3604

Objective: Congenital diaphragmatic hernia (CDH) is a congenital birth defect affecting around 1/3000 births. We propose that a significant number of isolated CDH cases have an underlying genetic cause, and that a subset of these result from copy number variations (CNVs) identifiable by array CGH. M...