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Autosomal dominant duplication of the renal collecting system, hearing loss, and external ear anomalies: a new syndrome?

作者信息

Fraser F C, Aymé S, Halal F, Sproule J

出版信息

Am J Med Genet. 1983 Mar;14(3):473-8. doi: 10.1002/ajmg.1320140311.

Abstract

We report two families in which propositi had severe bilateral sensorineural hearing loss, a preauricular pit or tag, and duplication of the ureters or bifid renal pelvices. Other relatives had one or more of these anomalies in a pattern suggesting autosomal dominant inheritance with reduced penetrance and variable expressivity. We suggest the term "branchio-oto-ureteral syndrome" to designate this condition.

摘要

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