Molecular cytogenetic characterization of isolated recurrent 4q35.2 microduplication in Chinese population: a seven-year single-center retrospective study

Abstract Background With the extensive use of chromosomal microarray analysis (CMA), an increasing number of variants of uncertain significance (VOUS) have been detected. The objective of the present study was to elucidate the pathogenicity and clinical variability associated with isolated recurrent...

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Autores principales:	Jianlong Zhuang, Qiulan Wei, Yuying Jiang, Shuhong Zeng, Haijuan Lou, Na Zhang, Chunnuan Chen
Formato:	Artigo
Lenguaje:	Inglês
Publicado:	BMC 2024-09-01
Colección:	BMC Pregnancy and Childbirth
Materias:	Whole exome sequencing Chromosomal microarray analysis Phenotypical diversity 4q35.2 microduplication Lowe syndrome
Acceso en línea:	https://doi.org/10.1186/s12884-024-06818-z
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