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2 results on '"Hoefele, Julia"'

1. Mapping of a new locus for congenital anomalies of the kidney and urinary tract on chromosome 8q24.

Author

Ashraf, Shazia, Hoskins, Bethan E., Chaib, Hassan, Hoefele, Julia, Pasch, Andreas, Saisawat, Pawaree, Trefz, Friedrich, Hacker, Hans W., Nuernberg, Gudrun, Nuernberg, Peter, Otto, Edgar A., and Hildebrandt, Friedhelm

Subjects
HUMAN abnormalities, KIDNEY diseases, JUVENILE diseases, GENOMES
Abstract

Background. Congenital anomalies of the kidney and urinary tract (CAKUT) account for the majority of end-stage renal disease in children (50%). Previous studies have mapped autosomal dominant loci for CAKUT. We here report a genome-wide search for linkage in a large pedigree of Somalian descent containing eight affected individuals with a non-syndromic form of CAKUT. [ABSTRACT FROM PUBLISHER]

Published
2010
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