软骨发育不全症与成纤维细胞生长因子受体-3致病基因OACSTPCD
Achondroplasia and pathogenic gene of FGFR-3
软骨发育不全（ ACH）是一种由于软骨内骨化缺陷所致的发育异常，临床上以四肢短、躯干相对正常、巨头、脊柱胸腰段后凸、椎管狭窄为特征，是成纤维细胞生长因子受体-3（ FGFR3）基因突变所致疾病。本文就ACH致病基因FGFR3的结构、功能、致病机制、产前诊断的有关进展作一综述。
Achondroplasia ( ACH) is dysplasia due to the defects in endochondral ossification .It is character-ized by short extremities, a large head with frontal bossing, exaggerated lumbar lordosis and sinal stenosis .Recently, more and more study had been done on the structure , function and mechanism of disease-causing gene of ACH , also the Prenatal diagnosis .This article reviews the progress of the study on the pathogenic gene FGFR-3.
戚仁竞;章振林;康庆林
215000 苏州，苏州大学医学部200233 上海，上海交通大学附属第六人民医院骨质疏松和骨病专科200233 上海，上海交通大学附属第六人民医院骨科
医药卫生
软骨发育不全成纤维细胞生长因子受体-3
achondroplasiafibroblast growth factor receptor 3
《中华骨质疏松和骨矿盐疾病杂志》 2014 (1)
91-94,4
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