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Open Access 01-08-2010 | Brief Report

Focal segmental glomerulosclerosis, Coats’-like retinopathy, sensorineural deafness and chromosome 4 duplication: a new association

Authors: Ben C. Reynolds, Richard J. L. F. Lemmers, John Tolmie, Allan G. Howatson, David A. Hughes

Published in: Pediatric Nephrology | Issue 8/2010

Abstract

We describe the novel association in a girl of nephrotic syndrome due to focal segmental glomerulosclerosis, bilateral sensorineural deafness, basal ganglia calcification, bilateral retinopathy similar to that seen in Coats’ disease, with de novo duplication of a subtelomeric region of chromosome 4q35. The chromosomal duplication was identified during investigation of a possible association with features of fascio-scapulo-humeral dystrophy (FSHD). This duplication has not previously been reported with FSGS and adds to the expanding number of genetic associations with steroid-resistant nephrotic syndrome.

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Title: Focal segmental glomerulosclerosis, Coats’-like retinopathy, sensorineural deafness and chromosome 4 duplication: a new association
Authors: Ben C. Reynolds
Richard J. L. F. Lemmers
John Tolmie
Allan G. Howatson
David A. Hughes
Publication date: 01-08-2010
Publisher: Springer-Verlag
Published in: Pediatric Nephrology / Issue 8/2010
Print ISSN: 0931-041X
Electronic ISSN: 1432-198X
DOI: https://doi.org/10.1007/s00467-010-1474-5

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Focal segmental glomerulosclerosis, Coats’-like retinopathy, sensorineural deafness and chromosome 4 duplication: a new association

Abstract

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Abstract

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