Copy-number variation analysis in familial nonsyndromic congenital anomalies of the kidney and urinary tract: Evidence for the causative role of a transposable element-associated genomic rearrangement

Most congenital anomalies of the kidney and urinary tract (CAKUT) are sporadic, but familial occurrence has been described, suggesting a genetic contribution. Copy-number variations (CNVs) were detected in patients with CAKUT to identify possible novel genomic regions associated with CAKUT. CNVs wer...

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Detalles Bibliográficos
Autores principales: Siomou, Ekaterini, Mitsioni, Artemis G., Giapros, Vasileios, Bouba, Ioanna, Noutsopoulos, Dimitrios, Georgiou, Ioannis
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2017
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5436203/
https://www.ncbi.nlm.nih.gov/pubmed/28440405
http://dx.doi.org/10.3892/mmr.2017.6462

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5436203/
https://www.ncbi.nlm.nih.gov/pubmed/28440405
http://dx.doi.org/10.3892/mmr.2017.6462

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