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Familial occurrence of hereditary renal adysplasia with Müllerian anomalies
Author(s) -
Battin Jacques,
Lacombe Didier,
Leng JeanJoël
Publication year - 1993
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1993.tb04420.x
Subject(s) - penetrance , müllerian mimicry , expressivity , renal agenesis , mullerian ducts , atresia , medicine , agenesis , variable expression , biology , phenotype , genetics , kidney , pathology , anatomy , uterus , gene
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.