The Hypomorphic Variant p.(Gly624Asp) in COL4A5 as a Possible Cause for an Unexpected Severe Phenotype in a Family With X-Linked Alport Syndrome-Reference-Cited by-同舟云学术

The Hypomorphic Variant p.(Gly624Asp) in COL4A5 as a Possible Cause for an Unexpected Severe Phenotype in a Family With X-Linked Alport Syndrome

Published:2019-11-26 Issue: Volume:7 Page:
ISSN:2296-2360
Container-title:Frontiers in Pediatrics
language:
Short-container-title:Front. Pediatr.

Author:

Macheroux Eva Pauline,Braunisch Matthias C.,Pucci Pegler Stephanie,Satanovskij Robin,Riedhammer Korbinian M.,Günthner Roman,Gross Oliver,Nagel Mato,Renders Lutz,Hoefele Julia

Publisher

Frontiers Media SA

Subject

Pediatrics, Perinatology, and Child Health

Reference32 articles.

1. Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome;Nagel;Hum Mutat.,2005

2. Alport's syndrome, Goodpasture's syndrome, and type IV collagen;Hudson;N Engl J Med.,2003

3. Meta-analysis of genotype-phenotype correlation in X-linked Alport syndrome: impact on clinical counselling;Gross;Nephrol Dial Transplant.,2002

4. Novel COL4A4 splice defect and in-frame deletion in a large consanguine family as a genetic link between benign familial haematuria and autosomal Alport syndrome;Gross;Nephrol Dial Transplant.,2003

5. Genetics of classic Alport's syndrome;Flinter;Lancet.,1988

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