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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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2003
2003
Posterior chorioretinal atrophy and vitreous phenotype in a family with Stickler syndrome from a mutation in the COL2A1 gene.
2001
2001
Stickler syndrome and vitreoretinal degeneration: correlation between locus mutation and vitreous phenotype. Apropos of a case
Abstract. Background: Autosomal dominant vitreoretinopathies are characterized by genetic heterogeneity. Structural mutations in… 
Review
1998
Review
1998
Genetics and hearing loss: a review of Stickler syndrome.
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… 
1996
1996
PCR assay confirms diagnosis in syndrome with variably expressed phenotype: mutation detection in Stickler syndrome.
Stickler syndrome is an autosomal dominant disease with ocular (severe myopia, vitreal degeneration, and retinal detachment) and… 
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
1993
Highly Cited
1993
A fourth example suggests that premature termination codons in the COL2A1 gene are a common cause of the Stickler syndrome: analysis of the COL2A1 gene by denaturing gradient gel electrophoresis.
A series of oligonucleotide primers was designed to generate polymerase chain reaction products that contained exons 6 to 49 of… 
Highly Cited
1991
Highly Cited
1991
Genetic and clinical heterogeneity of Stickler syndrome.
We have studied 6 multigeneration Stickler syndrome families. Manifestations of the syndrome in the families included myopia… 
1990
1990
Exclusion of COL2A1 as a candidate gene in a family with Wagner-Stickler syndrome.
A large family with Wagner's vitreoretinal degeneration but none of the non-ocular features of Stickler's syndrome has been… 
1983
1983
Stickler syndrome: a cephalometric study of the face.
A lateral roentgencephalometric study to compare the facial morphology of 21 affected and 18 normal members of 8 families with… 
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