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Vitreous phenotype: genotype correlation in Stickler syndrome

✍ Scribed by David McLeod,Graeme C. M. Black…

Book ID
113040534
Publisher
Springer-Verlag
Year
2001
Tongue
English
Weight
24 KB
Volume
240
Category
Article
ISSN
0065-6100

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✍ Allan J. Richards; Annie McNinch; Howard Martin; Kim Oakhill; Harjeet Rai; Sarah 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 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