A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral reflux

Congenital anomalies of the kidney and urinary tract (CAKUT) are the most common cause (40–50%) of chronic kidney disease (CKD) in children. About 40 monogenic causes of CAKUT have so far been discovered. To date less than 20% of CAKUT cases can be explained by mutations in these 40 genes. To identi...

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Detalles Bibliográficos
Autores principales: van der Ven, Amelie T., Kobbe, Birgit, Kohl, Stefan, Shril, Shirlee, Pogoda, Hans-Martin, Imhof, Thomas, Ityel, Hadas, Vivante, Asaf, Chen, Jing, Hwang, Daw-Yang, Connaughton, Dervla M., Mann, Nina, Widmeier, Eugen, Taglienti, Mary, Schmidt, Johanna Magdalena, Nakayama, Makiko, Senguttuvan, Prabha, Kumar, Selvin, Tasic, Velibor, Kehinde, Elijah O., Mane, Shrikant M., Lifton, Richard P., Soliman, Neveen, Lu, Weining, Bauer, Stuart B., Hammerschmidt, Matthias, Wagener, Raimund, Hildebrandt, Friedhelm
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5774751/
https://www.ncbi.nlm.nih.gov/pubmed/29351342
http://dx.doi.org/10.1371/journal.pone.0191224

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