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Article

Adult-Diagnosed Nonsyndromic Nephronophthisis in Australian Families Caused by Biallelic NPHP4 Variants.

American journal of kidney diseases : the official journal of the National Kidney Foundation - 1 Aug 2020

Hudson Rebecca, Patel Chirag, Hawley Carmel M, O'Shea Stacey, Snelling Paul, Ho Gladys, Holman Katherine, Bennetts Bruce, Crawford Joanna, Francis Leo, Simons Cas, Mallett Andrew

Abstract excerpt

There is increasing appreciation of nephronophthisis (NPHP) as an autosomal recessive cause of kidney failure and earlier stages of chronic kidney disease among adults. We identified 2 families with presumed adult-diagnosed nonsyndromic NPHP and negative diagnostic genetic testing results from our Renal Genetics Clinic. Both had 2 affected siblings without extrarenal phenotypes. After informed consent, research...

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PMID: 31810733
DOI: 10.1053/j.ajkd.2019.08.031

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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