QR kód

A case of concurrent Alport syndrome and Nail-patella syndrome posing diagnostic challenge without genetic testing

Abstract Hereditary glomerular basement membrane disease is a group of conditions caused by genetic mutations in the development and maintenance of the glomerular basement membrane. Alport syndrome is a classic example caused by variants in the genes COL4A3, COL4A4, or COL4A5. Less common example in...

Celý popis

Uloženo v:
Hlavní autoři: Winston Wing-Shing Fung, Maggie Lo-Yee Yau, Pensi Ping Hei Lam, Cheuk-Chun Szeto, Shuk-Ching Chong, Kai-Ming Chow
Médium: Artigo
Jazyk:Inglês
Vydáno: BMC 2025-11-01
Edice:BMC Nephrology
Témata:
Alport syndrome
Nail-patella syndrome
Hereditary glomerular basement membrane disease
Genetics
On-line přístup:https://doi.org/10.1186/s12882-025-04606-1
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo vytvoří štítek k tomuto záznamu!

Podobné jednotky