Clinical and radiographic features of a family with hypochondroplasia owing to a novel Asn540Ser mutation in the fibroblast growth factor receptor 3 gene.
作者信息
Mortier G, Nuytinck L, Craen M, Renard J P, Leroy J G, de Paepe A
出版信息
J Med Genet. 2000 Mar;37(3):220-4. doi: 10.1136/jmg.37.3.220.
Abstract
摘要
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Clinical and radiographic features of a family with hypochondroplasia owing to a novel Asn540Ser mutation in the fibroblast growth factor receptor 3 gene.由于成纤维细胞生长因子受体3基因中一种新的Asn540Ser突变导致的软骨发育不全家族的临床和影像学特征。
J Med Genet. 2000 Mar;37(3):220-4. doi: 10.1136/jmg.37.3.220.
2
Common mutations in the fibroblast growth factor receptor 3 (FGFR 3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfism.成纤维细胞生长因子受体3（FGFR 3）基因的常见突变导致软骨发育不全、软骨发育低下和致死性侏儒症。
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A novel missense mutation Ile538Val in the fibroblast growth factor receptor 3 in hypochondroplasia. Mutations in brief no. 122. Online.软骨发育不全中纤维母细胞生长因子受体3的一种新型错义突变Ile538Val。简短突变报道第122号。在线版。
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Genotype phenotype correlation in achondroplasia and hypochondroplasia.软骨发育不全和软骨发育低下的基因型与表型相关性
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Atypical achondroplasia.
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A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia.成纤维细胞生长因子受体3酪氨酸激酶结构域的复发性突变导致软骨发育不全。
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Hypochondroplasia and stature within normal limits: another family with an Asn540Ser mutation in the fibroblast growth factor receptor 3 gene.低软骨发育不全与身高正常：另一个成纤维细胞生长因子受体3基因存在Asn540Ser突变的家族。
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FGFR3 gene mutations in transmembrane domain in Chinese achondroplasia and hypochondroplasia patients.中国软骨发育不全和软骨发育低下患者中跨膜结构域的FGFR3基因突变
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Common mutations in the gene encoding fibroblast growth factor receptor 3 account for achondroplasia, hypochondroplasia and thanatophoric dysplasia.编码成纤维细胞生长因子受体3的基因中的常见突变导致了软骨发育不全、低软骨发育不全和致死性骨发育不全。
Acta Paediatr Suppl. 1996 Oct;417:33-8. doi: 10.1111/j.1651-2227.1996.tb14291.x.
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