1) spondyloepiphyseal dysplasia tarda(SEDL)
迟发性脊椎骨髓发育不良(SEDL)
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) 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)
4) spondyloepiphyseal dysplasia tarda gene
迟发性脊椎骨骺发育不良基因
5) Myelodysplasia
[,maiələudi'spleiziə]
脊髓发育不良
6) osteomyelodysplasia
[,ɔstiəu,maiələudi'spleizjə]
骨髓发育不良
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。
说明：补充资料仅用于学习参考，请勿用于其它任何用途。
参考词条