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Article

Molecular Study of Nephronophthisis in 7 Unrelated Pakistani Families.

Iranian journal of kidney diseases - 1 Jul 2018

Hussain Sofia, Akhtar Naureen, Qamar Reem, Khan Naima, Naeem Muhammad

Abstract excerpt

Nephronophthisis is an autosomal recessive cystic kidney disease characterized by tubular interstitial infiltration, periglomerular fibrosis, and cysts, and is the most frequent genetic cause of end-stage renal disease in children. Nephronophthisis is pleiotropic as almost all the causative genes are involved in primary cilium and centrosome function which are found in almost all human cells. Genetic...

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Source

Identifiers

PMID: 30087219

Genes

NPHP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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