Copy number variation analysis identifies novel CAKUT candidate genes in children with a solitary functioning kidney

Copy number variations associate with different developmental phenotypes and represent a major cause of congenital anomalies of the kidney and urinary tract (CAKUT). Because rare pathogenic copy number variations are often large and contain multiple genes, identification of the underlying genetic dr...

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Detalles Bibliográficos
Autores principales: Westland, Rik, Verbitsky, Miguel, Vukojevic, Katarina, Perry, Brittany J., Fasel, David A., Zwijnenburg, Petra J.G., Bökenkamp, Arend, Gille, Johan J.P., Saraga-Babic, Mirna, Ghiggeri, Gian Marco, D’Agati, Vivette D., Schreuder, Michiel F., Gharavi, Ali G., van Wijk, Joanna A.E., Sanna-Cherchi, Simone
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4834924/
https://www.ncbi.nlm.nih.gov/pubmed/26352300
http://dx.doi.org/10.1038/ki.2015.239

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