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Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2
BACKGROUND: The Pierre Robin sequence (PRS), consisting of cleft palate, micrognathia and glossoptosis, can be seen as part of the phenotype in other Mendelian syndromes—for instance, campomelic dysplasia (CD) which is caused by SOX9 mutations—but the aetiology of non‐syndromic PRS has not yet been...
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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: |
BMJ Group
2007
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2740883/ https://ncbi.nlm.nih.gov/pubmed/17551083 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2006.046177 |
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