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Prenatal diagnosis of 17q12 microdeletion and microduplication syndrome in fetuses with congenital renal abnormalities

BACKGROUND: Copy number variations (CNVs) involving the 17q12 region are associated with a broad range of clinical phenotypes. Deletion of the 17q12 chromosome results in structural or functional abnormalities in the kidney and urethra, type 5 diabetes (MODY5), and neurodevelopmental or neuropsychia...

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Detalles Bibliográficos
Autores principales:	Wan, Shanning, Zheng, Yunyun, Dang, Yinghui, Song, Tingting, Chen, Biliang, Zhang, Jianfang
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2019
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6525371/ https://www.ncbi.nlm.nih.gov/pubmed/31131025 http://dx.doi.org/10.1186/s13039-019-0431-7

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