Spondyloepiphyseal Dysplasia Maroteaux Type: Report of Three Patients from Two Families and Exclusion of Type II Collagen Defects.
American journal of medical genetics Part A(2003)
关键词
skeletal dysplasia,spondyloepiphyseal dysplasia,spondyloperipheral dysplasia,type E brachydactyly,COL2A1
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