Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Discordant phenotypic expression of Alport syndrome in monozygotic twins.

Clinical nephrology - 1 Oct 2004

Matsukura H, Higuchi A, Ieki A, Miyawaki T

Abstract excerpt

BACKGROUND: Alport syndrome is a genetically heterogeneous disorder, but most patients showed the X-linked form resulting from mutations in the COL4A5 gene. A few cases of mosaicism in Alport syndrome have been reported. METHODS: We describe the case of an 8-year-old boy with mosaicism in Alport syndrome. Punch skin biopsies were obtained from the patient's mother and monozygotic twin brother. Five biopsy...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Child
Share to Collagen Type IV
Share to Gene Expression Regulation

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Kidney

Share to Mosaicism

Share to Nephritis, Hereditary

Share to Phenotype

Share to Twins, Monozygotic

Source

Identifiers

PMID: 15524063
DOI: 10.5414/cnp62313

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Discordant phenotypic expression of Alport syndrome in monozygotic twins.PMID 15524063Read ↗

Comparison of alpha5(IV) collagen chain expression in skin with disease severity in women with X-linked Alport syndrome.Semantic proximity Read ↗

The clinical spectrum of type IV collagen mutations.Semantic proximity Read ↗

Skin biopsy is a practical approach for the clinical diagnosis and molecular genetic analysis of X-linked Alport's syndrome.Semantic proximity Read ↗

Glomerular pathology in Alport syndrome: a molecular perspective.Semantic proximity Read ↗

Autosomal recessive Alport syndrome: immunohistochemical study of type IV collagen chain distribution.Semantic proximity Read ↗

Ultrastructural and immunohistochemical findings in Alport's syndrome: a study of 108 patients from 97 Italian families with particular emphasis on COL4A5 gene mutation correlations.Semantic proximity Read ↗

X-linked Alport syndrome presenting in mother and son with the same unique histopathological features.Semantic proximity Read ↗

Somatic mosaicism for a mutation of the COL4A5 gene is a cause of mild phenotype male Alport syndrome.Semantic proximity Read ↗

COL4A6 is dispensable for autosomal recessive Alport syndrome.Semantic proximity Read ↗

Identification of COL4A5 defects in Alport's syndrome by immunohistochemistry of skinSemantic proximity Read ↗

Alport syndrome. An inherited disorder of renal, ocular, and cochlear basement membranes.Semantic proximity Read ↗

Alport syndrome and thin glomerular basement membrane nephropathy: a practical approach to diagnosis.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.