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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...
Autores principales: | Chen, Jing, Xia, Zhongmin, Zhou, Yulin, Ma, Xiaomin, Wang, Xudong, Guo, Qiwei |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2021
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Materias: | |
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 |
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