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

Novel LMX1B mutation in familial nail-patella syndrome with variable expression of open angle glaucoma.

Molecular vision - 27 Apr 2007

Millá Elena, Hernan Imma, Gamundi Maria José, Martínez-Gimeno Maria, Carballo Miguel

Abstract excerpt

PURPOSE: To describe the genetic and clinical findings in a large Spanish pedigree with nail-patella syndrome (NPS) and to investigate the expressivity of open angle glaucoma (OAG) in the family members. METHODS: All individuals underwent a complete ophthalmologic examination, including optical c...

Read the complete abstract on PubMed

Topics

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

Share to Codon, Terminator
Share to Frameshift Mutation
Share to Glaucoma, Open-Angle

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Homeodomain Proteins

Share to LIM-Homeodomain Proteins

Share to Retina

Share to Tomography, Optical Coherence

Share to Ultrasonography

Source

Open in PubMed Open full text

Identifiers

PMID: 17515884
PMCID: PMC2669506

Genes

NPS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17515884-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel LMX1B mutation in familial nail-patella syndrome with variable expression of open angle glaucoma.PMID 17515884Read ↗

c.194 A>C (Q65P) mutation in the LMX1B gene in patients with nail-patella syndrome associated with glaucoma.Semantic proximity Read ↗

Nail-Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity.Semantic proximity Read ↗

Loss-of-Function Mutations in the LIM-Homeodomain Gene, LMX1B, in Nail-Patella SyndromeSemantic proximity Read ↗

Nail-patella syndrome and its association with glaucoma: a review of eight families.Semantic proximity Read ↗

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

The human LMX1B gene: transcription unit, promoter, and pathogenic mutations.Semantic proximity Read ↗

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

Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy.Semantic proximity Read ↗

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

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

[Ocular involvement in nail-patella syndrome (#161200)].Semantic proximity Read ↗

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