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Skeletal Deformity Associated with SHOX Deficiency
SHOX haploinsufficiency due to mutations in the coding exons or microdeletions involving the coding exons and/or the enhancer regions accounts for approximately 80% and 2–16% of genetic causes of Leri-Weill dyschondrosteosis and idiopathic short stature, respectively. The most characteristic feature...
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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: |
The Japanese Society for Pediatric Endocrinology
2014
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4125598/ https://ncbi.nlm.nih.gov/pubmed/25110390 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1297/cpe.23.65 |
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