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A prenatal diagnosis and genetics study of five pedigrees in the Chinese population with Xp22.31 microduplication

BACKGROUND: Copy number variations (CNVs) can contribute to human phenotype, phenotypic diversity and disease susceptibility, while others may benign. In the current study, an attempt to investigate the pathogenicity of CNVs in chromosome Xp22.31 was explored. METHODS: G-banding and SNP-array techni...

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Detalles Bibliográficos
Autores principales:	Zhuang, Jianlong, Wang, Yuanbai, Zeng, Shuhong, Lv, Chunling, Lin, Yiming, Jiang, Yuying
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2019
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6907354/ https://www.ncbi.nlm.nih.gov/pubmed/31857824 http://dx.doi.org/10.1186/s13039-019-0461-1

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