nephrologylinx Medical News about Familial Focal Segmental Glomerulosclerosis

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Familial Focal Segmental Glomerulosclerosis

Article Summary

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Familial Focal Segmental Glomerulosclerosis Associated With an ACTN4 Mutation and Paternal Germline Mosaicism
American Journal of Kidney Diseases, 04/22/08

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Free Abstract

Choi HJ et al. - FSGS1 may have widely variable clinical and pathological phenotypes and therefore should be considered in young children with full-blown and rapidly progressing nephrotic syndrome. The possibility of germline mosaicism makes interpretation of molecular diagnoses and genetic counseling more difficult.

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