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Desbuquois dysplasia type I and fetal hydrops due to novel mutations in the CANT1 gene
We report on three hydropic fetuses of 17, 22 and 25 gestational weeks from three distinct families presenting with Desbuquois dysplasia type 1. All fetuses showed brachymelia and characteristic dysmorphic features. X-ray studies revealed δ-shaped extraphalangeal bones and disease-specific prominenc...
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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: |
Nature Publishing Group
2011
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3198135/ https://ncbi.nlm.nih.gov/pubmed/21654728 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2011.101 |
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