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An illustrative case of Léri-Weill dyschondrosteosis
We report on a girl presenting Léri-Weill dyschondrosteosis (LWD) due to deletion of the SHOX gene. Her family included individuals with short stature alone or with both short stature and mesomelia or Madelung's deformity. The deletion was demonstrated through detection of hemizygosity...
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| Main Authors: | , , , , |
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| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
Sociedade Brasileira de Genética
2008-01-01
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| 叢編: | Genetics and Molecular Biology |
| 主題: | |
| 在線閱讀: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572008000500007 |
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