先天性股骨弯曲的新见解。
New insights in congenital bowing of the femora.
作者信息
Cormier-Daire V, Geneviève D, Munnich A, Le Merrer M
机构信息
Department of Medical Genetics, Hôpital Necker, Paris, France.
出版信息
Clin Genet. 2004 Sep;66(3):169-76. doi: 10.1111/j.0009-9163.2004.00307.x.
Abstract
The aim of this study is to review the clinical, radiological and molecular findings of the bent bone dysplasia group including Stüve-Wiedemann syndrome due to LIFR mutations, Compomelic dysplasia due to SOX9 mutations and Kyphomelic dysplasia with no known molecular bases.
摘要
本研究的目的是回顾弯曲骨发育异常组的临床、放射学和分子学研究结果，该组包括因LIFR基因突变导致的施图韦-维德曼综合征、因SOX9基因突变导致的肢体短小发育异常以及分子基础不明的脊柱后凸发育异常。
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