The aggrecanopathies; an evolving phenotypic spectrum of human genetic skeletal diseases
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چکیده
منابع مشابه
The aggrecanopathies; an evolving phenotypic spectrum of human genetic skeletal diseases
The large chondroitin sulphated proteoglycan aggrecan (ACAN) is the most abundant non-collagenous protein in cartilage and is essential for its structure and function. Mutations in ACAN result in a broad phenotypic spectrum of non-lethal skeletal dysplasias including spondyloepimetaphyseal dysplasia, spondyloepiphyseal dysplasia, familial osteochondritis dissecans and various undefined short st...
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ژورنال
عنوان ژورنال: Orphanet Journal of Rare Diseases
سال: 2016
ISSN: 1750-1172
DOI: 10.1186/s13023-016-0459-2