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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...

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Detalles Bibliográficos
Autores principales: Zhuang, Jianlong, Liu, Shufen, Chen, Xinying, Jiang, Yuying, Chen, Chunnuan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
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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