Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the α2(XI) chain of type XI collagen
- 28 February 1998
- journal article
- case report
- Published by Elsevier BV 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 6 references indexed in Scilit:
- A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagenHuman Molecular Genetics, 1996
- The Human COL11A2 Gene Structure Indicates that the Gene Has Not Evolved with the Genes for the Major Fibrillar CollagensOnline Journal of Public Health Informatics, 1995
- Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locusCell, 1995
- Stickler syndrome: Correlation between vitreoretinal phenotypes and linkage to COL 2A1Eye, 1994
- Stickler's syndrome.Journal of Medical Genetics, 1989
- PIERRE ROBIN, MICROGNATHIA, AND AIRWAY OBSTRUCTIONInternational Anesthesiology Clinics, 1988