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http://purl.uniprot.org/citations/10889003http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/10889003http://www.w3.org/2000/01/rdf-schema#comment"

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 COL11A1 splicing.

Design

Clinical otolaryngologic, audiologic, vestibular, and radiologic evaluations of the auditory and vestibular systems.

Subjects

Three affected individuals from a family cosegregating Marshall syndrome and a COL11A1 splice site mutation.

Results

The study subjects have progressive sensorineural hearing loss that is predominantly cochlear in origin and asymptomatic dysfunction of the central and peripheral vestibular systems. Computed tomography detected no malformations of temporal bone structures.

Conclusions

The observed auditory and vestibular abnormalities are not caused by defective morphogenesis of the osseous labyrinth, but by more direct effects of the COL11A1 mutation on the membranous labyrinth and the central nervous system. The onset and degree of hearing loss associated with COL11A1 mutations are useful clinical features to differentiate Marshall syndrome from the phenotypically similar Stickler syndrome."xsd:string
http://purl.uniprot.org/citations/10889003http://purl.org/dc/terms/identifier"doi:10.1001/archotol.126.7.891"xsd:string
http://purl.uniprot.org/citations/10889003http://purl.uniprot.org/core/author"Griffith A.J."xsd:string
http://purl.uniprot.org/citations/10889003http://purl.uniprot.org/core/author"Gebarski S.S."xsd:string
http://purl.uniprot.org/citations/10889003http://purl.uniprot.org/core/author"Kileny P.R."xsd:string
http://purl.uniprot.org/citations/10889003http://purl.uniprot.org/core/author"Shepard N.T."xsd:string
http://purl.uniprot.org/citations/10889003http://purl.uniprot.org/core/date"2000"xsd:gYear
http://purl.uniprot.org/citations/10889003http://purl.uniprot.org/core/name"Arch Otolaryngol Head Neck Surg"xsd:string
http://purl.uniprot.org/citations/10889003http://purl.uniprot.org/core/pages"891-894"xsd:string
http://purl.uniprot.org/citations/10889003http://purl.uniprot.org/core/title"Audiovestibular phenotype associated with a COL11A1 mutation in Marshall syndrome."xsd:string
http://purl.uniprot.org/citations/10889003http://purl.uniprot.org/core/volume"126"xsd:string
http://purl.uniprot.org/citations/10889003http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/10889003
http://purl.uniprot.org/citations/10889003http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/10889003
http://purl.uniprot.org/uniprot/P12107#attribution-491B0DD37F3B90E3589BF618AA1050BChttp://purl.uniprot.org/core/sourcehttp://purl.uniprot.org/citations/10889003