Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management.

doi:10.1016/j.kint.2016.10.013

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Article

Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management.

Kidney international - 1 Apr 2017

Bierzynska Agnieszka, McCarthy Hugh J, Soderquest Katrina, Sen Ethan S, Colby Elizabeth, Ding Wen Y, Nabhan Marwa M, Kerecuk Larissa, Hegde Shivram, Hughes David, Marks Stephen, Feather Sally, Jones Caroline, Webb Nicholas J A, Ognjanovic Milos, Christian Martin, Gilbert Rodney D, Sinha Manish D, Lord Graham M, Simpson Michael, Koziell Ania B, Welsh Gavin I, Saleem Moin A

Abstract excerpt

Steroid Resistant Nephrotic Syndrome (SRNS) in children and young adults has differing etiologies with monogenic disease accounting for 2.9-30% in selected series. Using whole exome sequencing we sought to stratify a national population of children with SRNS into monogenic and non-monogenic forms, and further define those groups by detailed phenotypic analysis. Pediatric patients with SRNS were identified via a...

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PMID: 28117080
DOI: 10.1016/j.kint.2016.10.013

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DGKE
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