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

• المؤلفون الرئيسيون: Kasemsri Srisupundit, Paul D. Brady, Koenraad Devriendt, Jean Pierre Fryns, Rogelio Cruz-Martinez, Eduard Gratacos, Jan A. Deprest, Joris R. Vermeesch
• التنسيق: دورية
• منشور في: 2018
• الموضوعات: Medicine
• الوصول للمادة أونلاين: https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=78649655581&origin=inward; http://cmuir.cmu.ac.th/jspui/handle/6653943832/51024
• المؤسسة: Chiang Mai University

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...