Corneal endothelial cell abnormalities in X-linked Alport syndrome

Autor:	Jacqueline Beltz, Eleanor Nicklason, Julie Jacob, Mina Farahani, Judy Savige, Heather G Mack, Deb Colville
Rok vydání:	2020
Předmět:	Adult Collagen Type IV Male congenital hereditary and neonatal diseases and abnormalities Pathology medicine.medical_specialty Nephritis Hereditary urologic and male genital diseases Corneal Diseases otorhinolaryngologic diseases medicine Humans Alport syndrome skin and connective tissue diseases Genetics (clinical) Aged Basement membrane Kidney business.industry Endothelium Corneal Dystrophy Middle Aged medicine.disease Prognosis female genital diseases and pregnancy complications Ophthalmology Posterior polymorphous corneal dystrophy medicine.anatomical_structure Case-Control Studies Pediatrics Perinatology and Child Health Mutation Female business Nephritis Kidney disease
Zdroj:	Ophthalmic genetics. 41(1)
ISSN:	1744-5094
Popis:	Background: X-linked Alport syndrome results from the effect of COL4A5 mutations on basement membranes in the kidney, ear and eye. This study investigated individuals with X-linked Alport s...
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95e75eadca1b6dc982b7a06fc9b207fe https://pubmed.ncbi.nlm.nih.gov/32159412 Zobrazit plný text záznamu Plný text ve formátu PDF Plný text ve formátu HTML
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