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].
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| http://dx.doi.org/10.1002/ajmg.1320290414 | DOI Listing |
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