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Article

COL4A4-related nephropathy caused by a novel mutation in a large consanguineous Saudi family.

International journal of pediatric otorhinolaryngology - 1 Mar 2014

Ramzan Khushnooda, Imtiaz Faiqa, Taibah Khalid, Alnufiee Samir, Akhtar Mohammed, Al-Hazzaa Selwa A F, Al-Owain Mohammed

Abstract excerpt

INTRODUCTION: Collagen type IV related nephropathies are due to the defects in collagen IV genes COL4A3, COL4A4, or COL4A5 and comprise a spectrum of phenotypes ranging from Alport Syndrome (AS) to its mild variants, termed as familial haematuria or thin basement membrane nephropathy. Classical AS is a progressive renal disease presenting with a triad of progressive hematuric nephritis and typical extra-renal...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24398087
DOI: 10.1016/j.ijporl.2013.12.008

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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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