Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract

Congenital anomalies of the kidney and urinary tract (CAKUT) account for approximately half of children with chronic kidney disease. CAKUT can be caused by monogenic mutations, however, data are lacking on their frequency. Genetic diagnosis has been hampered by genetic heterogeneity and lack of geno...

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Detalles Bibliográficos
Autores principales: Hwang, Daw-Yang, Dworschak, Gabriel C., Kohl, Stefan, Saisawat, Pawaree, Vivante, Asaf, Hilger, Alina C., Reutter, Heiko M., Soliman, Neveen A., Bogdanovic, Radovan, Kehinde, Elijah O., Tasic, Velibor, Hildebrandt, Friedhelm
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2014
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4040148/
https://www.ncbi.nlm.nih.gov/pubmed/24429398
http://dx.doi.org/10.1038/ki.2013.508

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4040148/
https://www.ncbi.nlm.nih.gov/pubmed/24429398
http://dx.doi.org/10.1038/ki.2013.508

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