Renal and urological tract malformations caused by a 22q11 deletion

被引:38
作者
Devriendt, K
Swillen, A
Fryns, JP
Proesmans, W
Gewillig, M
机构
[1] KATHOLIEKE UNIV LEUVEN HOSP,DEPT PAEDIAT,DIV PAEDIAT NEPHROL,B-3000 LOUVAIN,BELGIUM
[2] KATHOLIEKE UNIV LEUVEN HOSP,DIV PAEDIAT CARDIOL,B-3000 LOUVAIN,BELGIUM
关键词
D O I
10.1136/jmg.33.4.349
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:349 / 349
页数:1
相关论文
共 11 条
[1]   SPECTRUM OF THE DIGEORGE SYNDROME [J].
CONLEY, ME ;
BECKWITH, JB ;
MANCER, JFK ;
TENCKHOFF, L .
JOURNAL OF PEDIATRICS, 1979, 94 (06) :883-890
[2]  
DRISCOLL DA, 1992, AM J HUM GENET, V50, P924
[3]   BRANCHIOOTORENAL SYNDROME - REDUCED PENETRANCE AND VARIABLE EXPRESSIVITY IN 4 GENERATIONS OF A LARGE KINDRED [J].
HEIMLER, A ;
LIEBER, E .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1986, 25 (01) :15-27
[4]  
LEVYMOZZICONACCI A, 1994, EUR J PEDIATR, V153, P813
[5]   VELOCARDIOFACIAL (SHPRINTZEN) SYNDROME - AN IMPORTANT SYNDROME FOR THE DYSMORPHOLOGIST TO RECOGNIZE [J].
LIPSON, AH ;
YUILLE, D ;
ANGEL, M ;
THOMPSON, PG ;
VANDERVOORD, JG ;
BECKENHAM, EJ .
JOURNAL OF MEDICAL GENETICS, 1991, 28 (09) :596-604
[6]   THE VELO-CARDIO-FACIAL (SHPRINTZEN) SYNDROME - CLINICAL VARIABILITY IN 8 PATIENTS [J].
MEINECKE, P ;
BEEMER, FA ;
SCHINZEL, A ;
KUSHNICK, T .
EUROPEAN JOURNAL OF PEDIATRICS, 1986, 145 (06) :539-544
[7]   HEREDITARY RENAL ADYSPLASIA - NEW OBSERVATIONS AND HYPOTHESES [J].
MOERMAN, P ;
FRYNS, JP ;
SASTROWIJOTO, SH ;
VANDENBERGHE, K ;
LAUWERYNS, JM .
PEDIATRIC PATHOLOGY, 1994, 14 (03) :405-410
[8]   DECREASE IN THYROCALCITONIN-CONTAINING CELLS AND ANALYSIS OF OTHER CONGENITAL-ANOMALIES IN 11 PATIENTS WITH DIGEORGE ANOMALY [J].
PALACIOS, J ;
GAMALLO, C ;
GARCIA, M ;
RODRIGUEZ, JI .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1993, 46 (06) :641-646
[9]   DEFECTS IN THE KIDNEY AND ENTERIC NERVOUS-SYSTEM OF MICE LACKING THE TYROSINE KINASE RECEPTOR RET [J].
SCHUCHARDT, A ;
DAGATI, V ;
LARSSONBLOMBERG, L ;
COSTANTINI, F ;
PACHNIS, V .
NATURE, 1994, 367 (6461) :380-383
[10]  
TANAGO EA, 1976, UROLOGY, V5, P451