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

Brittle cornea syndrome associated with a missense mutation in the zinc-finger 469 gene.

Investigative ophthalmology & visual science - 1 Jan 2010

Christensen Anne E, Knappskog Per M, Midtbø Marit, Gjesdal Clara G, Mengel-From Jonas, Morling Niels, Rødahl Eyvind, Boman Helge

Abstract excerpt

PURPOSE: To investigate the diverse clinical manifestations, identify the causative mutation and explain the association with red hair in a family with brittle cornea syndrome (BCS). METHODS: Eight family members in three generations underwent ophthalmic, dental, and general medical examinations, including radiologic examination of the spine. Bone mineral density (BMD) and serum levels of vitamin D, parathyroid...

Read the complete abstract on PubMed

Topics

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

Share to Corneal Diseases
Share to Dental Enamel Hypoplasia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hair Color

Share to Parathyroid Hormone

Share to Radiography

Share to Receptor, Melanocortin, Type 1

Share to Scoliosis

Share to Vitamin D

Source

Identifiers

PMID: 19661234
DOI: 10.1167/iovs.09-4251

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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

Brittle cornea syndrome associated with a missense mutation in the zinc-finger 469 gene.PMID 19661234Read ↗

Deleterious mutations in the Zinc-Finger 469 gene cause brittle cornea syndrome.Semantic proximity Read ↗

Biallelic novel variants in ZNF469 causing Brittle Cornea Syndrome 1: a detailed report of an Indian patient.Semantic proximity Read ↗

Identification of a novel ZNF469 mutation in a large family with Ehlers-Danlos phenotype.Semantic proximity Read ↗

More than meets the eye: Expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome.Semantic proximity Read ↗

Whole-Exome Sequencing Identifies Novel Compound Heterozygous ZNF469 Mutations in Two Siblings with Mild Brittle Cornea Syndrome.Semantic proximity Read ↗

More than meets the eye: expanding and reviewing the clinical and mutational spectrum of brittle cornea syndromeSemantic proximity Read ↗

ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components.Semantic proximity Read ↗

New ZNF469 Mutations in Spanish Siblings With Brittle Cornea Syndrome.Semantic proximity Read ↗

Brittle cornea syndrome: recognition, molecular diagnosis and management.Semantic proximity Read ↗

Brittle cornea syndrome ZNF469 mutation carrier phenotype and segregation analysis of rare ZNF469 variants in familial keratoconus.Semantic proximity Read ↗

A mouse model of brittle cornea syndrome caused by mutation in Zfp469.Semantic proximity Read ↗

Brittle cornea without clinically-evident extraocular findings in an adult harboring a novel homozygous ZNF469 mutation.Semantic proximity Read ↗

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