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

• Главные авторы: Jing Chen (Автор), Zhongmin Xia (Автор), Yulin Zhou (Автор), Xiaomin Ma (Автор), Xudong Wang (Автор), Qiwei Guo (Автор)
• Формат: ‌
• Опубликовано: BMC, 2021-03-01T00:00:00Z.
• Предметы: article
• Online-ссылка: 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...