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

[Nail-patella syndrome].

Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete - 1 Nov 1996

Wildfeuer T, Albrecht G

Abstract excerpt

The nail-patella syndrome is an autosomal dominant trait characterized by abnormalities of the nails, patella and radial head, iliac crest and, in some cases, nephropathy. The genetic defect is localized on chromosome 9q34.1. The clinical features in affected individuals vary greatly. The nephropathy may progress to end-stage renal failure, leading to decreased life expectancy. We report a woman with bilateral...

Read the complete abstract on PubMed

Topics

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

Share to Aged
Share to Chromosome Aberrations
Share to Chromosome Disorders

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

Share to Chromosomes, Human, Pair 9

Share to Genes, Dominant

Share to Phenotype

Share to Radiography

Share to Aged, 80 and over

Source

Identifiers

PMID: 9036142
DOI: 10.1007/s001050050522

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Nail-patella syndrome].PMID 9036142Read ↗

[The nail-patella syndrome: rare genetically determined cause of proteinuria].Semantic proximity Read ↗

Nail-patella syndrome. Overview on clinical and molecular findings.Semantic proximity Read ↗

Nail-patella syndrome with nephropathy in a de novo LMX1B mutation: Triangular lunula of the thumb and lack of finger creases as cluesSemantic proximity Read ↗

Spectrum of LMX1B mutations: from nail-patella syndrome to isolated nephropathy.Semantic proximity Read ↗

Nail-patella syndrome with nephropathy in a de novo LMX1B mutation: triangular lunula of the thumb and lack of finger creases as clues.Semantic proximity Read ↗

Clinico-genetic study of nail-patella syndrome.Semantic proximity Read ↗

Nail-patella syndrome.Semantic proximity Read ↗

Nail patella syndrome: a review of the phenotype aided by developmental biology.Semantic proximity Read ↗

Nail Patella Syndrome Diagnosed in a Proband With Renal Failure Through Skeletal and Nail Deformities in Her Offspring: A Case Report of a Novel De Novo Genetic Defect in the LMX1B Gene.Semantic proximity Read ↗

Diagnosing nail-patella syndrome: can it be so simple?Semantic proximity Read ↗

[From gene to disease; the nail-patella syndrome and the LMX1B gene].Semantic proximity Read ↗

Clinical and genetic characterization of nephropathy in patients with nail-patella syndrome.Semantic proximity Read ↗

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