Comprehensive genetic testing in children with a clinical diagnosis of ARPKD identifies phenocopies.

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作者： Tamás,Szabó ^[1] ; Petronella,Orosz ^[1] ; Eszter,Balogh ^[2] ; Eszter,Jávorszky ^[2] ; István,Máttyus ^[3] ; Csaba,Bereczki ^[2] ; Zoltán,Maróti ^[3] ; Tibor,Kalmár ^[2] ; Attila J,Szabó ^[4] ; George,Reusz ^[4] ; Ildikó,Várkonyi ^[4] ; Erzsébet,Marián ^[2] ; Éva,Gombos ^[5] ; Orsolya,Orosz ^[2] ; László,Madar ^[2] ; György,Balla ^[6] ; János,Kappelmayer ^[7] ; Kálmán,Tory ^[7] ; István,Balogh ^[7]

作者单位： Department of Pediatrics, Faculty of Medicine, University of Debrecen, Debrecen, Hungary. ^[1] Ist Department of Pediatrics, Semmelweis University Budapest, Bókay J. u. 53., Budapest, 1083, Hungary. ^[2] MTA-SE Lendulet Nephrogenetic Laboratory, Budapest, Hungary. ^[3] Department of Pediatrics, University of Szeged, Szeged, Hungary. ^[4] MTA-SE Pediatrics and Nephrology Research Group, Budapest, Hungary. ^[5] Department of Pediatrics, Szabolcs-Szatmár-Bereg Jósa András County Hospital, Nyíregyháza, Hungary. ^[6] Division of Clinical Genetics, Department of Laboratory Medicine, Faculty of Medicine, University of Debrecen, 4032 Debrecen, Nagyerdei krt. 98., Debrecen, Hungary. ^[7] Ist Department of Pediatrics, Semmelweis University Budapest, Bókay J. u. 53., Budapest, 1083, Hungary. tory.kalman@med.semmelweis-univ.hu. ^[8] MTA-SE Lendulet Nephrogenetic Laboratory, Budapest, Hungary. tory.kalman@med.semmelweis-univ.hu. ^[9] Division of Clinical Genetics, Department of Laboratory Medicine, Faculty of Medicine, University of Debrecen, 4032 Debrecen, Nagyerdei krt. 98., Debrecen, Hungary. balogh@med.unideb.hu. ^[10]

关键词 CNV Duplication Phenocopy Polycystic kidney Second locus mutation