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

Audiovestibular phenotype associated with a COL11A1 mutation in Marshall syndrome.

Archives of otolaryngology--head & neck surgery - 1 Jul 2000

Griffith A J, Gebarski S S, Shepard N T, Kileny P R

Abstract excerpt

BACKGROUND: Marshall syndrome is a dominant disorder characterized by craniofacial and skeletal abnormalities, sensorineural hearing loss, myopia, and cataracts, and is associated with splicing mutations in COL11A1. OBJECTIVE: To determine the auditory and vestibular phenotypes associated with a...

Read the complete abstract on PubMed

Topics

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

Share to Audiometry, Pure-Tone
Share to Craniofacial Abnormalities
Share to Hearing Loss, Sensorineural

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to RNA Splicing

Share to Syndrome

Share to Temporal Bone

Share to Tomography, X-Ray Computed

Share to Vestibular Diseases

Source

Identifiers

PMID: 10889003
DOI: 10.1001/archotol.126.7.891

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-10889003-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Audiovestibular phenotype associated with a COL11A1 mutation in Marshall syndrome.PMID 10889003Read ↗

Marshall syndrome: further evidence of a distinct phenotypic entity and report of new findings.Semantic proximity Read ↗

Hearing Outcomes in Stickler Syndrome: Variation Due to COL2A1 and COL11A1.Semantic proximity Read ↗

Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.Semantic proximity Read ↗

Hearing Loss in Stickler Syndrome: An Update.Semantic proximity Read ↗

Hearing impairment in Stickler syndrome: a systematic review.Semantic proximity Read ↗

A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literature.Semantic proximity Read ↗

Homozygous Type IX collagen variants (COL9A1, COL9A2, and COL9A3) causing recessive Stickler syndrome—Expanding the phenotypeSemantic proximity Read ↗

Spectrum of temporal bone abnormalities in patients with Waardenburg syndrome and SOX10 mutations.Semantic proximity Read ↗

Auditory phenotype in Stickler syndrome: results of audiometric analysis in 20 patients.Semantic proximity Read ↗

Novel and recurrent COL11A1 and COL2A1 mutations in the Marshall–Stickler syndrome spectrumSemantic proximity Read ↗

Marshall syndrome associated with a splicing defect at the COL11A1 locus.Semantic proximity Read ↗

A recessive form of Marshall syndrome is caused by a mutation in the COL11A1 gene.Semantic proximity Read ↗

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