A de novo frameshift variant of ANKRD11 (c.1366_1367dup) in a Chinese patient with KBG syndrome

• Main Authors: Jing Chen (Author), Zhongmin Xia (Author), Yulin Zhou (Author), Xiaomin Ma (Author), Xudong Wang (Author), Qiwei Guo (Author)
• Format: Book
• Published: BMC, 2021-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background KBG syndrome is a rare autosomal dominant genetic disease mainly caused by pathogenic variants of ankyrin repeat domain-containing protein 11 (ANKRD11) or deletions involving ANKRD11. Herein, we report a novel de novo heterozygous frameshift ANKRD11 variant via whole exome sequen...