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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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| 主要な著者: | , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Sociedade Brasileira de Genética
2008-01-01
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| シリーズ: | Genetics and Molecular Biology |
| 主題: | |
| オンライン･アクセス: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572008000500007 |
| タグ: |
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