Background: Alport syndrome (AS) is a disease caused by mutations in COL4A3, COL4A4
or COL4A5, the genes that encode distinct chains of type IV collagen. The vast majority of …

Alport syndrome is a genetic and hereditary disease, caused by mutations in the type IV
collagen genes COL4A3, COL4A4 and COL4A5, that affects the glomerular basement …

Alport syndrome (AS) is a hereditary kidney disease associated with proteinuria, hematuria
and progressive kidney failure. It is characterized by a defective glomerular basement …

Alport syndrome is a hereditary disorder characterized by kidney disease, ocular
abnormalities, and sensorineural hearing loss. Work in understanding the cause of Alport …

The hereditary type IV collagen disease Alport syndrome (AS) always leads to end-stage
renal failure. Yesterday, for the past 90 years, this course was described as 'inevitable' …

Background Alport syndrome is an inherited renal disorder characterized by glomerular
basement membrane lesions with hematuria, proteinuria and frequent hearing defects and …

Alport syndrome results from mutations in the COL4A5 (X-linked) or COL4A3/COL4A4
(recessive) genes. This study examined 754 previously-unpublished variants in these genes …

Alport syndrome is inherited as an X-linked (XL), autosomal recessive (AR) or autosomal
dominant (AD) disease, where pathogenic COL4A3–5 variants affect the basement …

Background: Alport syndrome (AS) is a genetically heterogeneous disorder that is
characterized by hematuria, progressive renal failure typically resulting in end-stage renal …

Alport Syndrome is a progressive renal disease with cochlear and ocular involvement. The
most common form (∼ 80%) is inherited in an X‐linked pattern. X‐linked Alport Syndrome …