كلية التمريض - جامعة تكريت

المؤلفون
Shigeru Suzuki, Atsushi Nakao, Ashoor R Sarhat, Akiko Furuya, Kumihiro Matsuo, Yusuke Tanahashi, Hiroki Kajino, Hiroshi Azuma
تاريخ النشر
2014/2/1
مجلة
American Journal of Medical Genetics Part A
المجلد
164
الإصدار
2
الصفحات
476-479
الوصف
Abstract Recently, GATA6 heterozygous loss-of-function mutations were reported to cause
pancreatic agenesis and congenital heart defects (PACHD [OMIM: 600001]). However, the
molecular mechanisms resulting from premature termination codons have not been
examined in this disorder. The objective of this study was to perform a genetic analysis of a
patient with PACHD. A female patient presented with ventricular septal defect, patent ductus
arteriosus, and congenital diaphragmatic hernia at birth. Permanent neonatal diabetes