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Identification of a novel isolated 4q35.2 microdeletion in a Chinese pediatric patient using chromosomal microarray analysis: a case report and literature review
BACKGROUND: Isolated terminal 4q35.2 microdeletion is an extremely rare copy number variant affecting people all over the world. To date, researchers still have controversial opinions and results on its pathogenicity. Here, we aim to present a Chinese pediatric patient with terminal 4q35.2 microdele...
Autores principales: | Zhuang, Jianlong, Liu, Shufen, Chen, Xinying, Jiang, Yuying, Chen, Chunnuan |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10399047/ https://www.ncbi.nlm.nih.gov/pubmed/37533110 http://dx.doi.org/10.1186/s13039-023-00651-3 |
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