Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the α2(XI) chain of type XI collagen

Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus

Miikka Vikkula, Edwin C.M Madman, Vincent Chi Hang Lui et al. · Cell · 1995 · 409 citations · Full text

Medicine, Genetics, Molecular Genetics +9

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) collagen

Allan J. Richards · Human Molecular Genetics · 1996 · 305 citations

Life Sciences, Genetics, Ophthalmology +16

PIERRE ROBIN, MICROGNATHIA, AND AIRWAY OBSTRUCTION

Robert J. Shprintzen · International Anesthesiology Clinics · 1988 · 127 citations

Medicine, Plastic Surgery, Surgery +13

A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene

Han G. Brunner, Sylvia E. C. van Beersum, Matt Warman et al. · Human Molecular Genetics · 1994 · 122 citations

Life Sciences, Genetics, Molecular Genetics +12

Stickler syndrome: Correlation between vitreoretinal phenotypes and linkage to COL 2A1

Martin P. Snead, Stewart J. Payne, David Barton et al. · Eye · 1994 · 97 citations

Medicine, Genetics, Ophthalmology +11