Targeted disruption of Col11a2 produces a mild cartilage phenotype in transgenic mice: Comparison with the human disorder otospondylomegaepiphyseal dysplasia (OSMED)
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چکیده
منابع مشابه
Oto- spondylo-megaepiphyseal dysplasia (OSMED): clinical description of three patients homozygous for a missense mutation in the COL11A2 gene.
We describe a syndrome of midface hypoplasia, non-progressive sensorineural deafness and epiphyseal dysplasia in 3 sibs born to consanguineous parents. Clinical and roentgenographic findings are compatible with a diagnosis of oto-spondylo-megaepiphyseal dysplasia (OSMED). Histologic study of cartilage shows severe osteoarthritis, which may necessitate joint replacements in early adulthood. Ultr...
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We describe a mild form of disproportionate dwarfism in Labrador Retrievers, which is not associated with any obvious health problems such as secondary arthrosis. We designate this phenotype as skeletal dysplasia 2 (SD2). It is inherited as a monogenic autosomal recessive trait with incomplete penetrance primarily in working lines of the Labrador Retriever breed. Using 23 cases and 37 controls ...
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ژورنال
عنوان ژورنال: Developmental Dynamics
سال: 2001
ISSN: 1058-8388,1097-0177
DOI: 10.1002/dvdy.1178