Somatic Mosaicism in a Male Patient With X-linked Alport Syndrome
Author:
Publisher
Elsevier BV
Subject
Nephrology
Reference9 articles.
1. Alport syndrome: a unified classification of genetic disorders of collagen IV α345: a position paper of the Alport Syndrome Classification Working Group;Kashtan;Kidney Int,2018
2. Prognostic value of glomerular collagen IV immunofluorescence studies in male patients with X-linked Alport syndrome;Massella;Clin J Am Soc Nephrol,2013
3. Alport syndrome;Kashtan;Kidney Int,1996
4. Somatic mosaicism and variant frequency detected by next-generation sequencing in X-linked Alport syndrome;Fu;Eur J Hum Genet,2016
5. Criteria for clinical reporting of variants from a broad target capture NGS assay without Sanger verification;Nelson;JSM Biomar,2015
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1. X-linked Alport Syndrome with Type IV Collagen <i>α</i>5 Chain Staining Revealing Normal Expression in the Glomerular Basement Membrane and Negative on Bowman’s Capsule and Distal Tubular Basement Membrane: A Case Report;The Tohoku Journal of Experimental Medicine;2023
2. Prospective collagen IVα345 therapies for Alport syndrome;Current Opinion in Nephrology & Hypertension;2022-03-10
3. Detection of Very Low-Level Somatic Mosaic COL4A5 Splicing Variant in Asymptomatic Female Using Droplet Digital PCR;Frontiers in Medicine;2022-03-07
4. Alport syndrome: our knowledge update;Nephrology (Saint-Petersburg);2021-04-23
5. Diagnostic Value of Type IV Collagen Expression in Renal Glomeruli at Alport’s Syndrome;Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics);2021-01-22
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