Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the α2(XI) chain of type XI collagen
- 1 February 1998
- journal article
- case report
- Published by Elsevier in The Journal of Pediatrics
- Vol. 132 (2) , 368-371
- https://doi.org/10.1016/s0022-3476(98)70466-4
Abstract
No abstract availableKeywords
This publication has 7 references indexed in Scilit:
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- The Human COL11A2 Gene Structure Indicates that the Gene Has Not Evolved with the Genes for the Major Fibrillar CollagensJournal of Biological Chemistry, 1995
- Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locusCell, 1995
- Stickler syndrome: Correlation between vitreoretinal phenotypes and linkage to COL 2A1Eye, 1994
- A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 geneHuman Molecular Genetics, 1994
- Stickler's syndrome.Journal of Medical Genetics, 1989
- PIERRE ROBIN, MICROGNATHIA, AND AIRWAY OBSTRUCTIONInternational Anesthesiology Clinics, 1988