Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants

• Main Authors: Xiang Chen (Author), Kai Yan (Author), Yanyan Gao (Author), Huijun Wang (Author), Guoqiang Chen (Author), Bingbing Wu (Author), Qian Qin (Author), Lin Yang (Author), Wenhao Zhou (Author)
• Format: Book
• Published: BMC, 2019-05-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background CHARGE syndrome is characterized by coloboma, heart defects, choanal atresia, growth retardation, genitourinary malformation and ear abnormalities. The chromodomain helicase DNA-binding protein 7 (CHD7) gene is the major cause of CHARGE syndrome and is inherited in an autosomal d...