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Hearing Loss in the Nonocular Stickler Syndrome Caused by a COL11A2 Mutation

✍ Scribed by Ronald J. C. Admiraal; Han G. Brunner; Tjard L. Dijkstra; Patrick L. M. Huygen; Cor W. R. J. Cremers


Book ID
110082270
Publisher
John Wiley and Sons
Year
2000
Tongue
English
Weight
105 KB
Volume
110
Category
Article
ISSN
0023-852X

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Stickler syndrome and the vitreous pheno
✍ Allan J. Richards; Annie McNinch; Howard Martin; Kim Oakhill; Harjeet Rai; Sarah πŸ“‚ Article πŸ“… 2010 πŸ› John Wiley and Sons 🌐 English βš– 770 KB

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