Clinical findings and genetic analysis of patients with copy number variants involving 17p13.3 using a single nucleotide polymorphism array: a single-center experience

BACKGROUND: 17p13.3 microdeletions or microduplications (collectively known as copy number variants or CNVs) have been described in individuals with neurodevelopmental disorders. However, 17p13.3 CNVs were rarely reported in fetuses. This study aims to investigate the clinical significance of 17p13....

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Detalles Bibliográficos
Autores principales: Liang, Bin, Yu, Donghong, Zhao, Wantong, Wang, Yan, Wu, Xiaoqing, Chen, Lingji, Lin, Na, Huang, Hailong, Xu, Liangpu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9773569/
https://www.ncbi.nlm.nih.gov/pubmed/36544138
http://dx.doi.org/10.1186/s12920-022-01423-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9773569/
https://www.ncbi.nlm.nih.gov/pubmed/36544138
http://dx.doi.org/10.1186/s12920-022-01423-5

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