Article
Mutations in DSTYK and dominant urinary tract malformations.
The New England journal of medicine - 15 Aug 2013
Sanna-Cherchi Simone, Sampogna Rosemary V, Papeta Natalia, Burgess Katelyn E, Nees Shannon N, Perry Brittany J, Choi Murim, Bodria Monica, Liu Yan, Weng Patricia L, Lozanovski Vladimir J, Verbitsky Miguel, Lugani Francesca, Sterken Roel, Paragas Neal, Caridi Gianluca, Carrea Alba, Dagnino Monica, Materna-Kiryluk Anna, Santamaria Giuseppe, Murtas Corrado, Ristoska-Bojkovska Nadica, Izzi Claudia, Kacak Nilgun, Bianco Beatrice, Giberti Stefania, Gigante Maddalena, Piaggio Giorgio, Gesualdo Loreto, Vukic Durdica Kosuljandic, Vukojevic Katarina, Saraga-Babic Mirna, Saraga Marijan, Gucev Zoran, Allegri Landino, Latos-Bielenska Anna, Casu Domenica, State Matthew, Scolari Francesco, Ravazzolo Roberto, Kiryluk Krzysztof, Al-Awqati Qais, D'Agati Vivette D, Drummond Iain A, Tasic Velibor, Lifton Richard P, Ghiggeri Gian Marco, Gharavi Ali G
Abstract excerpt
BACKGROUND: Congenital abnormalities of the kidney and the urinary tract are the most common cause of pediatric kidney failure. These disorders are highly heterogeneous, and the etiologic factors are poorly understood. METHODS: We performed genomewide linkage analysis and whole-exome sequencing in a family with an autosomal dominant form of congenital abnormalities of the kidney or urinary tract (seven affected...
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