Identifying mutations that cause specific osteochondrodysplasias will provide novel insights into the function of genes that are essential for skeletal morphogenesis. We report here that an autosomal dominant form of Stickler syndrome, characterized by mild spondyloepiphyseal dysplasia, osteoarthritis, and sensorineural hearing loss, but no eye involvement, is caused by a splice donor site mutation resulting in 'in-frame' exon skipping within the COL11A2 gene, encoding the α2(XI) chain of the quantitatively minor fibrillar collagen XI. We also show that an autosomal recessive disorder with similar, but more severe, characteristics is linked to the COL11A2 locus and is caused by a glycine to arginine substitution in α2(XI) collagen. The resu...
SummaryMarshall syndrome is a rare, autosomal dominant skeletal dysplasia that is phenotypically sim...
The Stickler syndrome (SS) has been described as a "hereditary progressive arthro-ophtalmopathy" by ...
SummaryOtospondylomegaepiphyseal dysplasia (OSMED) is an autosomal recessive skeletal dysplasia acco...
AbstractIdentifying mutations that cause specific osteochon-drodysplasias will provide novel insight...
Abstract Collagens IX, a non-fibrillar collagen, and XI, a fibrillar collagen, are minor components ...
Abstract Collagen XI is a minor component of articular cartilage collagen fibrils together with coll...
BACKGROUND: Stickler syndromes types 1, 2 and 3 are usually dominant disorders caused by mutations i...
Fibrochondrogenesis is a severe, autosomal-recessive, short-limbed skeletal dysplasia. In a single c...
Fibrochondrogenesis is a severe, autosomal-recessive, short-limbed skeletal dysplasia. In a single c...
Abstract Collagens IX and XI are quantitatively minor components of the collagen fibrils in cartilag...
Fibrochondrogenesis is a severe, recessively inherited skeletal dysplasia shown to result from mutat...
Stickler syndrome (STL) is a clinically variable and genetically heterogeneous syndrome characterize...
Stickler syndrome is characterized by ophthalmic, articular, orofacial, and auditory manifestations....
Otospondylomegaepiphyseal dysplasia (OSMED) is an autosomal recessive skeletal dysplasia accompanied...
Stickler syndrome is characterized by ocular, auditory, skeletal, and orofacial abnormalities. We de...
SummaryMarshall syndrome is a rare, autosomal dominant skeletal dysplasia that is phenotypically sim...
The Stickler syndrome (SS) has been described as a "hereditary progressive arthro-ophtalmopathy" by ...
SummaryOtospondylomegaepiphyseal dysplasia (OSMED) is an autosomal recessive skeletal dysplasia acco...
AbstractIdentifying mutations that cause specific osteochon-drodysplasias will provide novel insight...
Abstract Collagens IX, a non-fibrillar collagen, and XI, a fibrillar collagen, are minor components ...
Abstract Collagen XI is a minor component of articular cartilage collagen fibrils together with coll...
BACKGROUND: Stickler syndromes types 1, 2 and 3 are usually dominant disorders caused by mutations i...
Fibrochondrogenesis is a severe, autosomal-recessive, short-limbed skeletal dysplasia. In a single c...
Fibrochondrogenesis is a severe, autosomal-recessive, short-limbed skeletal dysplasia. In a single c...
Abstract Collagens IX and XI are quantitatively minor components of the collagen fibrils in cartilag...
Fibrochondrogenesis is a severe, recessively inherited skeletal dysplasia shown to result from mutat...
Stickler syndrome (STL) is a clinically variable and genetically heterogeneous syndrome characterize...
Stickler syndrome is characterized by ophthalmic, articular, orofacial, and auditory manifestations....
Otospondylomegaepiphyseal dysplasia (OSMED) is an autosomal recessive skeletal dysplasia accompanied...
Stickler syndrome is characterized by ocular, auditory, skeletal, and orofacial abnormalities. We de...
SummaryMarshall syndrome is a rare, autosomal dominant skeletal dysplasia that is phenotypically sim...
The Stickler syndrome (SS) has been described as a "hereditary progressive arthro-ophtalmopathy" by ...
SummaryOtospondylomegaepiphyseal dysplasia (OSMED) is an autosomal recessive skeletal dysplasia acco...