Identification of 1q21.1 microduplication in a family: A case report

BACKGROUND: Copy number variation (CNV) has become widely recognized in recent years due to the extensive use of gene screening in developmental disorders and epilepsy research. 1q21.1 microduplication syndrome is a rare CNV disease that can manifest as multiple congenital developmental disorders, a...

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Detalles Bibliográficos
Autores principales: Huang, Ting-Ting, Xu, Hai-Feng, Wang, Shang-Yu, Lin, Wen-Xin, Tung, Yie-Hen, Khan, Kaleem Ullah, Zhang, Hui-Hui, Guo, Hu, Zheng, Guo, Zhang, Gang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Baishideng Publishing Group Inc 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9928700/
https://www.ncbi.nlm.nih.gov/pubmed/36818619
http://dx.doi.org/10.12998/wjcc.v11.i4.874

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9928700/
https://www.ncbi.nlm.nih.gov/pubmed/36818619
http://dx.doi.org/10.12998/wjcc.v11.i4.874

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