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

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...

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Principais autores: Jing Chen (Autor), Zhongmin Xia (Autor), Yulin Zhou (Autor), Xiaomin Ma (Autor), Xudong Wang (Autor), Qiwei Guo (Autor)
Formato: Livro
Publicado em: BMC, 2021-03-01T00:00:00Z.
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