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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.

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.

DOI:10.1136/jmg.37.3.220
PMID:10777366
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1734544/
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。
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2
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