Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association

Author:

Saisawat Pawaree,Kohl Stefan,Hilger Alina C.,Hwang Daw-Yang,Yung Gee Heon,Dworschak Gabriel C.,Tasic Velibor,Pennimpede Tracie,Natarajan Sivakumar,Sperry Ethan,Matassa Danilo S.,Stajić Nataša,Bogdanovic Radovan,de Blaauw Ivo,Marcelis Carlo L.M.,Wijers Charlotte H.W.,Bartels Enrika,Schmiedeke Eberhard,Schmidt Dominik,Märzheuser Stefanie,Grasshoff-Derr Sabine,Holland-Cunz Stefan,Ludwig Michael,Nöthen Markus M.,Draaken Markus,Brosens Erwin,Heij Hugo,Tibboel Dick,Herrmann Bernhard G.,Solomon Benjamin D.,de Klein Annelies,van Rooij Iris A.L.M.,Esposito Franca,Reutter Heiko M.,Hildebrandt Friedhelm

Publisher

Elsevier BV

Subject

Nephrology

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2. How they begin and how they end: classic and new theories for the development and deterioration of congenital anomalies of the kidney and urinary tract, CAKUT;Pope;J Am Soc Nephrol,1999

3. Paradigm shift from classic anatomic theories to contemporary cell biological views of CAKUT;Ichikawa;Kidney Int,2002

4. Congenital anomalies of the kidney and urinary tract: a genetic disorder?;Yosypiv;Int J Nephrol,2012

5. Copy-number disorders are a common cause of congenital kidney malformations;Sanna-Cherchi;Am J Hum Genet,2012

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