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

Mutation of WIF1: a potential novel cause of a Nail-Patella-like disorder.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Oct 2017

Jones Marilyn C, Topol Sarah E, Rueda Manuel, Oliveira Glenn, Phillips Tierney, Spencer Emily G, Torkamani Ali

Abstract excerpt

PURPOSE: Nail-Patella syndrome is a dominantly inherited genetic disorder characterized by abnormalities of the nails, knees, elbows, and pelvis. Nail abnormalities are the most constant feature of Nail-Patella syndrome. Pathogenic mutations in a single gene, LMX1B, a mesenchymal determinant of dorsal-ventral patterning, explain approximately 95% of Nail-Patella syndrome cases. However, 5% of cases remain...

Read the complete abstract on PubMed

Topics

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

Share to Adaptor Proteins, Signal Transducing
Share to Adolescent

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Kidney

Share to LIM-Homeodomain Proteins

Share to Patella

Share to Pedigree

Share to Repressor Proteins

Share to Transcription Factors

Source

Open in PubMed Open full text

Identifiers

PMID: 28383544
DOI: 10.1038/gim.2017.20
PMCID: PMC5629099

Genes

LMX1B
WIF1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutation of WIF1: a potential novel cause of a Nail-Patella-like disorder.PMID 28383544Read ↗

Gene symbol: LMX1B. Disease: Nail-patella syndrome.Semantic proximity Read ↗

Identification of a Novel Missense Mutation in the LMX1B Gene Associated with Nail-Patella Syndrome in a Chinese FamilySemantic proximity Read ↗

A spectrum of LMX1B mutations in Nail-Patella syndrome: new point mutations, deletion, and evidence of mosaicism in unaffected parents.Semantic proximity Read ↗

LMX1B mutations with nails and kneecaps: a new paradigm?Semantic proximity Read ↗

De novo enhancer deletion of LMX1B produces a mild nail-patella clinical phenotype.Semantic proximity Read ↗

Twenty-two novel LMX1B mutations identified in nail patella syndrome (NPS) patients.Semantic proximity Read ↗

A novel mutation in LMX1B gene in a newborn with nail-patella syndrome: Clinical and dermoscopic findings.Semantic proximity Read ↗

Nail-patella syndrome.Semantic proximity Read ↗

A novel LMX1B nonsense mutation in a family with nail-patella syndrome.Semantic proximity Read ↗

Identification of limb-specific Lmx1b auto-regulatory modules with Nail-patella syndrome pathogenicity.Semantic proximity Read ↗

Limb and kidney defects in Lmx1b mutant mice suggest an involvement of LMX1B in human nail patella syndromeSemantic proximity Read ↗

[Prenatal diagnosis and pedigree analysis of a case of Nail-patella syndrome].Semantic proximity Read ↗

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