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Marshall Syndrome and a Defect at the COL11A1 Locus

✍ Scribed by Alan Shanske; Anna Bogdanow; Robert J. Shprintzen; Robert W. Marion


Book ID
117852607
Publisher
American Society of Human Genetics
Year
1998
Tongue
English
Weight
35 KB
Volume
63
Category
Article
ISSN
0002-9297

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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