FAMILIAL OCCURRENCE OF HEREDITARY RENAL ADYSPLASIA WITH MULLERIAN ANOMALIES

被引：21
作者：
BATTIN, J
LACOMBE, D
LENG, JJ
机构：
[1] HOP ENFANTS PELLEGRIN,SERV PEDIAT & GENET MED,BORDEAUX,FRANCE
[2] CHU BORDEAUX,A MATERN PELLEGRIN,SERV GYNECOL OBSTET,BORDEAUX,FRANCE
来源：
CLINICAL GENETICS | 1993年 / 43卷 / 01期
关键词：
AUTOSOMAL DOMINANT INHERITANCE; HEREDITARY RENAL ADYSPLASIA; PENETRANCE; VONMAYER-ROKITANSKY-KUSTER ANOMALY;
D O I：
10.1111/j.1399-0004.1993.tb04420.x
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
We report on a family with unilateral or bilateral renal agenesis and Mullerian anomalies (vaginal atresia or minor anomalies). This family provides support for an autosomal dominant pattern of inheritance with incomplete penetrance and variable expressivity in hereditary renal adysplasia (HRA) associated with Mullerian defects.
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页码：23 / 24
页数：2
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