Clinical and Molecular Evaluation of SHOX/PAR1 Duplications in Léri-Weill Dyschondrosteosis (LWD) and Idiopathic Short Stature (ISS)
Léri-Weill dyschondrosteosis (LWD) is a skeletal dysplasia characterized by disproportionate short stature and the Madelung deformity of the forearm. SHOX mutations and pseudoautosomal region 1 deletions encompassing SHOX or its enhancers have been identified in approximately 60% of LWD and approxim...
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| Main Authors: | , , , , , , , , , , , , , , |
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| 格式: | Artigo |
| 语言: | 英语 |
| 出版: |
2010
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| 在线阅读: | https://doi.org/10.1210/jc.2010-1689 https://academic.oup.com/jcem/article-pdf/96/2/E404/9070242/jcemE404.pdf |
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