A comparison of the ocular features in Pierson and Alport syndrome: a case report and literature review-Reference-Cited by-同舟云学术

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A comparison of the ocular features in Pierson and Alport syndrome: a case report and literature review

Published:2023-08-03 Issue:5 Volume:44 Page:417-422
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Gooley Kieran¹,Williams Peter¹,Mack Heather²,Zhu Victor¹,Langsford David³,Pianta Tim³,Barit David³,Mahmood Khalid⁴,Savige Judy¹^ORCID

Affiliation:

1. Department of Medicine (Melbourne Health and Northern Health), The University of Melbourne, Parkville, Australia

2. Department of Ophthalmology, The University of Melbourne, East Melbourne, Australia

3. Renal Unit, Northern Health, Epping, Australia

4. Melbourne Bioinformatics, The University of Melbourne, Parkville, Australia

Funder

The authors report there was no funding for the work reported in this manuscript

Publisher

Informa UK Limited

Subject

Genetics (clinical),Ophthalmology,Pediatrics, Perinatology and Child Health

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2023.2240881

Reference36 articles.

1. Alport syndrome and Pierson syndrome: Diseases of the glomerular basement membrane

2. Identification of Mutations in the COL4A5 Collagen Gene in Alport Syndrome

3. Alport's syndrome

4. Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis

5. Correlation of histopathological features and renal impairment in autosomal dominant Alport syndrome in Bull terriers;Hood JC;Nephrol Dial Transplant,2002

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