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Branchio-Oto-Renal (BOR) syndrome: variable expressivity in a five-generation pedigree

  • Medical Genetics
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Abstract

A five-generation family with the branchio-oto-renal (BOR) syndrome is reported demonstrating the great variability of this syndrome. Symptoms of the branchio-oto, branchio-oto-ureteral, and BOR syndromes are seen in different members of this family, suggesting that these are not real entities, but variants of the BOR syndrome.

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Abbreviations

BOR :

branchio-otorenal

BO :

branchio-oto

BOU :

branchio-oto-ureteral

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Authors and Affiliations

  1. Institut für Humangenetik, Theodor-Stern-Kai 7, D-60590, Frankfurt/Main, Germany

    R. König, S. Fuchs & C. Dukiet

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  1. R. König
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  2. S. Fuchs
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  3. C. Dukiet
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König, R., Fuchs, S. & Dukiet, C. Branchio-Oto-Renal (BOR) syndrome: variable expressivity in a five-generation pedigree. Eur J Pediatr 153, 446–450 (1994). https://doi.org/10.1007/BF01983410

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  • DOI: https://doi.org/10.1007/BF01983410

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