遗传性肾发育异常合并苗勒管异常的家族性发病情况。
Familial occurrence of hereditary renal adysplasia with müllerian anomalies.
作者信息
Battin J, Lacombe D, Leng J J
机构信息
Service de Pédiatrie et Génétique Médicale, Hôpital d'Enfants-Pellegrin, Bordeaux, France.
出版信息
Clin Genet. 1993 Jan;43(1):23-4. doi: 10.1111/j.1399-0004.1993.tb04420.x.
Abstract
We report on a family with unilateral or bilateral renal agenesis and Müllerian 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 Müllerian defects.
摘要
我们报告了一个患有单侧或双侧肾发育不全以及苗勒氏管异常（阴道闭锁或轻微异常）的家族。该家族为遗传性肾发育异常（HRA）合并苗勒氏管缺陷的常染色体显性遗传模式提供了支持，其具有不完全外显率和可变表达性。
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