Relationship between Mayer-Rokitansky-Küster (MRK) anomaly and hereditary renal adysplasia (HRA)
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 inh...
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Veröffentlicht in: | American journal of medical genetics 1988-04, Vol.29 (4), p.845-849 |
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Hauptverfasser: | , , , , |
Format: | Artikel |
Sprache: | eng |
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Zusammenfassung: | 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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ISSN: | 0148-7299 1096-8628 |
DOI: | 10.1002/ajmg.1320290414 |