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Novel TFAP2A mutation in a Japanese family with Branchio-oculo-facial syndrome
Branchio-oculo-facial syndrome (BOFS) is a rare autosomal dominant disorder characterized by craniofacial, ocular, and ectodermal anomalies. BOFS is caused by mutation of the transcription factor AP2-alpha gene (TFAP2A). We performed detailed genetic analysis of a Japanese family with clinically sus...
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| 出版年: | Hum Genome Var |
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| 主要な著者: | , , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Nature Publishing Group UK
2018
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5945586/ https://ncbi.nlm.nih.gov/pubmed/29760939 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-018-0004-z |
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