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

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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Bibliographic Details
Main Authors: Jing Chen, Zhongmin Xia, Yulin Zhou, Xiaomin Ma, Xudong Wang, Qiwei Guo
Format: Article
Language:English
Published: BMC 2021-03-01
Series:BMC Medical Genomics
Subjects:
KBG syndrome
ANKRD11
Frameshift variant
Physical therapy
Whole-exome sequencing
Case report
Online Access:https://doi.org/10.1186/s12920-021-00920-3

Internet

https://doi.org/10.1186/s12920-021-00920-3

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