| Literature DB >> 3400728 |
R de C Pavanello1, A Eigier, P A Otto.
Abstract
We report the results of a study performed in a sample of women with the Mayer-Rokitansky-Küster (MRK) anomaly and in their first-degree relatives. Our results are compatible with a traditional model of multifactorial determination; however, we cannot exclude the hypothesis of autosomal dominant inheritance, with an intermediate degree of penetrance and a highly variable expressivity of a single mutant gene. In this sense, our data seem to support the idea expressed recently by Opitz [1987].Entities:
Mesh：
Year: 1988 PMID： 3400728 DOI： 10.1002/ajmg.1320290414
Source DB: PubMed Journal: Am J Med Genet ISSN： 0148-7299