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Stickler syndrome (disorder)

Known as: sticklers syndrome, arthro-ophthalmopathy, stickler's syndrome 
A rare autosomal dominant syndrome caused by mutations in the COL11A1, COL11A2, and COL2A1 genes which affect the production of type II and XI… 
National Institutes of Health

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COL2A1 geneCOL2A1 wt AlleleHereditary Diseases

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Stickler syndrome, type 1

Papers overview

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Review
2010
Review
2010
Mandibular distraction osteogenesis for pediatric airway management.
Highly Cited
2004
Highly Cited
2004
Pierre Robin Sequence in Denmark: A Retrospective Population-Based Epidemiological Study
Objective To give an epidemiological description of the clinical entity given the name Pierre Robin sequence, defined by retro… 
Review
2003
Review
2003
The Stickler syndrome: Genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1
Purpose: To evaluate a cohort of clinically diagnosed Stickler patients in which the causative COL2A1 mutation has been… 
Highly Cited
1999
Highly Cited
1999
Stickler syndrome: further mutations in COL11A1 and evidence for additional locus heterogeneity
Stickler syndrome (hereditary arthro-ophthalmopathy) is a dominantly inherited connective tissue disorder with ocular, oro-facial… 
Highly Cited
1998
Highly Cited
1998
Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha2(XI) chain of type XI collagen.
Highly Cited
1997
Highly Cited
1997
Oto- spondylo-megaepiphyseal dysplasia (OSMED): clinical description of three patients homozygous for a missense mutation in the COL11A2 gene.
We describe a syndrome of midface hypoplasia, non-progressive sensorineural deafness and epiphyseal dysplasia in 3 sibs born to… 
Highly Cited
1994
Highly Cited
1994
A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene.
Stickler syndrome (hereditary arthro-ophthalmopathy) is caused by mutations in the structural gene for collagen type II (COL2A1… 
Highly Cited
1994
Highly Cited
1994
Stickler syndrome: Correlation between vitreoretinal phenotypes and linkage to COL 2A1
Stickler syndrome is an autosomal dominantly inherited condition characterised by ocular, articular, facial, auditory and oral… 
Review
1993
Review
1993
A second mutation in the type II procollagen gene (COL2AI) causing stickler syndrome (arthro-ophthalmopathy) is also a premature termination codon.
Genetic linkage analyses suggest that mutations in type II collagen may be responsible for Stickler syndrome, or arthro… 
Highly Cited
1987
Highly Cited
1987
The Stickler syndrome: evidence for close linkage to the structural gene for type II collagen.
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