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Gene symbol: COL11A1 Disease: Marshall Syndrome

✍ Scribed by M. H. Meisler; A. J. Griffith; M. Warman; G. Tiller; L. K. Sprunger


Book ID
106136945
Publisher
Springer
Year
1998
Tongue
English
Weight
41 KB
Volume
102
Category
Article
ISSN
0340-6717

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Stickler syndrome and the vitreous pheno
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Stickler syndrome is a dominantly inherited disorder affecting the fibrillar type II/XI collagen molecules expressed in vitreous and cartilage. Mutations have been found in COL2A1, COL11A1 and COL11A2. It has a highly variable phenotype that can include midline clefting, hearing loss, premature oste