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

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 sequencing in...

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Detalles Bibliográficos
Autores principales: Chen, Jing, Xia, Zhongmin, Zhou, Yulin, Ma, Xiaomin, Wang, Xudong, Guo, Qiwei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7927266/
https://www.ncbi.nlm.nih.gov/pubmed/33653342
http://dx.doi.org/10.1186/s12920-021-00920-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7927266/
https://www.ncbi.nlm.nih.gov/pubmed/33653342
http://dx.doi.org/10.1186/s12920-021-00920-3

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