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BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome
BMP4 loss-of-function mutations and deletions have been shown to be associated with ocular, digital, and brain anomalies, but due to the paucity of these reports, the full phenotypic spectrum of human BMP4 mutations is not clear. We screened 133 patients with a variety of ocular disorders for BMP4 c...
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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: |
Springer-Verlag
2011
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3178759/ https://ncbi.nlm.nih.gov/pubmed/21340693 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-011-0968-y |
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