Perinatal deaths in a family with autosomal dominant polycystic kidney disease and a PKD2 mutation

被引:20
作者
Bergmann, Carsten [1 ]
Bruechle, Nadina Ortiz [1 ]
Frank, Valeska [1 ]
Rehder, Helga [2 ]
Zerres, Klaus [1 ]
机构
[1] Univ Aachen, Rhein Westfal TH Aachen, D-52074 Aachen, Germany
[2] Med Univ Vienna, A-1090 Vienna, Austria
关键词
D O I
10.1056/NEJMc0801868
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:318 / 319
页数:2
相关论文
共 5 条
[1]   AGE AT CLINICAL ONSET AND AT ULTRASONOGRAPHIC DETECTION OF ADULT POLYCYSTIC KIDNEY-DISEASE - DATA FOR GENETIC-COUNSELING [J].
BEAR, JC ;
MCMANAMON, P ;
MORGAN, J ;
PAYNE, RH ;
LEWIS, H ;
GAULT, MH ;
CHURCHILL, DN .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1984, 18 (01) :45-53
[2]   Genotype-phenotype correlations in autosomal dominant and autosomal recessive polycystic kidney disease [J].
Rossetti, Sandro ;
Harris, Peter C. .
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2007, 18 (05) :1374-1380
[3]   Molecular and cellular pathophysiology of autosomal recessive polycystic kidney disease (ARPKD) [J].
Sweeney, William E., Jr. ;
Avner, Ellis D. .
CELL AND TISSUE RESEARCH, 2006, 326 (03) :671-685
[4]   Mechanisms of disease: Polycystic kidney disease [J].
Wilson, PD .
NEW ENGLAND JOURNAL OF MEDICINE, 2004, 350 (02) :151-164
[5]   CHILDHOOD-ONSET AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE IN SIBS - CLINICAL PICTURE AND RECURRENCE RISK [J].
ZERRES, K ;
RUDNIKSCHONEBORN, S ;
DEGET, F .
JOURNAL OF MEDICAL GENETICS, 1993, 30 (07) :583-588