Renal cancer and malformations in relatives of patients with Bardet‐Biedl syndrome

Background. Bardet‐Biedl syndrome (BBS) is an autosomal recessive disorder with five loci identified thus far. The spectrum of disease includes diverse malformations of the kidney and lower urinary tract. The incidence of BBS is approximately 1/100 000 with a predicted heterozygote frequency of 1/16...

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Veröffentlicht in:Nephrology, dialysis, transplantation dialysis, transplantation, 2000-12, Vol.15 (12), p.1977-1985
Hauptverfasser: Beales, Philip L., Reid, Hugh A.S., Griffiths, Meryl H., Maher, Eamonn R., Flinter, Frances A., Woolf, Adrian S.
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Sprache:eng
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