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Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy

5 Jul 2018

Abstract excerpt

BACKGROUND: Nephronophthisis is an autosomal recessive ciliopathy and important cause of end-stage renal disease (ESRD) in children and young adults. Diagnostic delay is frequent. This study investigates clinical characteristics, initial symptoms, and genetic defects in a cohort with nephronophthisis-related ciliopathy, to improve early detection and genetic counseling. METHODS: Forty patients from 36 families...

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PMID: 29974258
DOI: 10.1007/s00467-018-3958-7

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