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Stickler syndrome caused by mutations in COL2A1, COL11A1, or COL11A2 is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the ... When Stickler syndrome is caused by mutations in the COL9A1 gene, it is inherited in an autosomal recessive pattern.
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ghr.nlm.nih.gov/condition=sticklersyndrome
ghr.nlm.nih.gov/condition=sticklersyndrome
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Was originally known as Pierre Robin Syndrome with Fetal Chondrodysplasia. It has more severe skeletal effects and delayed neonatal development, but may lack the eye and joint problems of Stickler's syndrome. It is recessive, not dominant.
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www.whonamedit.com/synd.cfm/1775.html
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dominant Stickler syndrome, type II; dominant Marshall syndrome; protein: collagen, type XI, alpha 1 [Entrez] ... recessive Wolfram syndrome; dominant low frequency sensorineural hearing loss; protein: wolframin [Entrez]
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www.sph.uth.tmc.edu/Retnet/disease.htm
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Dominant Gene Disorders ... Recessive Gene Disorders ... This alternative to an amniocentesis removes some of the chorionic villi and tests them for chromosomal abnormalities, such as Down syndrome. Its advantage over an amniocentesis is that it can be performed earlier, allowing more time for expectant parents to...
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kidshealth.org/parent/system/medical/prenatal_tests.htm...
kidshealth.org/parent/system/medical/prenatal_tests.html
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**Machado-Joseph Disease**; Machado-Joseph Disease; Machado-Joseph Disease(Autosomic Dominant Spinocerebellar Ataxia); ... **Stickler Syndrome**; About Stickler Syndrome; Stickler Syndrome; Stickler Syndrome II; Stickler Syndrome III; Stickler Syndrome IV; Stickler Syndrome V; Stickler Syndrome (Arthroophtalmopathy...
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www.newbedford.k12.ma.us/srhigh/oliveira/biolinks.htm
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We report here that an autosomal dominant form of Stickler syndrome, characterized by mild spondyloepiphyseal dysplasia, osteoarthritis, and sensorineural hearing loss, but no eye involvement, is caused by a splice donor site mutation resulting in "in-frame" ... We also show that an autosomal recessive disorder with similar,
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www.ncbi.nlm.nih.gov/pubmed/7859284
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Stickler syndrome caused by mutations in COL2A1, COL11A1, and COL11A2 is inherited in an autosomal dominant manner; Stickler syndrome caused by mutations in COL9A1 is inherited in an autosomal recessive manner.
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www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=s...
www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=stickler
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OBJECTIVE: To report a 3-generation white family clinically diagnosed variably with Wagner, Stickler, and Jansen syndromes and screened for sequence variants in the COL2A1 and CSPG2 genes. Wagner syndrome is an autosomal dominant vitreoretinopathy with a predisposition to retinal detachment and cataracts.
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lib.bioinfo.pl/pmid:16909383/pmid/sim
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Stickler syndrome type II (STL2) occurs due to mutations of the COL11A1 gene on chromosome 1p21 . The inheritance pattern is autosomal dominant. Stickler syndrome type III (STL3) has been described as a “Stickler-like” syndrome that affects the joints and hearing without involving the eyes.
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health.yahoo.com/musculoskeletal-resources/stickler-syn...
health.yahoo.com/musculoskeletal-resources/stickler-syndrome/healthwise--nord421.html
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