1) X-linked spondyloepiphyseal dysplasia tarda
X-连锁迟发性脊椎骨骺发育不良
1.
Mutation of acceptor splice site of the SEDL gene in X-linked spondyloepiphyseal dysplasia tarda causes the activation of cryptic splice site;
X-连锁迟发性脊椎骨骺发育不良SEDL基因剪接受体突变导致潜在剪接位点激活(英文)
2) spondyloepiphyseal dysplasia tarda
迟发性脊椎骨骺发育不良
1.
Identification of a novel mutation IVS2-2A→C of SEDL gene in a Chinese family with X-linked spondyloepiphyseal dysplasia tarda;
X-连锁迟发性脊椎骨骺发育不良家系SEDL基因突变研究
2.
X-linked spondyloepiphyseal dysplasia tarda (SEDL) is a rare osteochondrodysplasia caused by the mutation of SEDL gene, which mainly involves vertebral bodies and hips.
X连锁迟发性脊椎骨骺发育不良(spondyloepiphysealdysplasiatarda,SEDL)是一种少见的由SEDL基因突变引起的骨软骨发育障碍性疾病,病变主要累及腰椎和近端承重大关节。
3) spondyloepiphyseal dysplasia tarda gene
迟发性脊椎骨骺发育不良基因
4) spondyloepiphyseal dysplasia tarda(SEDL)
迟发性脊椎骨髓发育不良(SEDL)
5) Spondyloepiphyseal dysplasia
脊柱骨骺发育不良
1.
Spondyloepiphyseal dysplasia(SED) includes a group of disorders that cause deformation of vertebrae and epiphyses following gene mutations.
脊柱骨骺发育不良(SED)是一组由于基因突变导致脊柱和骨骺畸形的疾病,主要临床表现包括非匀称性矮身材(短躯干)、胸部畸形和早发性关节退行性变。
补充资料：X-连锁性脊椎骨骺发育不良综合征
X-连锁性脊椎骨骺发育不良综合征
为X-连锁隐性遗传。表现：于5～10岁间发病，矮小，身高最后为132～158cm。椎体扁平，中央隆起，脊柱后突，轻度侧弯，颈短。逐渐躯干变短。髂骨翼小。股骨颈短。股骨头变扁轻度骨骺不规则。40岁由于关节炎引起背、膝、髋痛，60岁往往致残。
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