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PHF6 Deletions May Cause Borjeson-Forssman-Lehmann Syndrome in Females
In a 16-year-old girl with intellectual disability, irregular teeth, slight body asymmetry, and striated skin pigmentation, highly skewed X-inactivation increased the likelihood of an X-linked cause of her condition. Among these, prominent supraorbital ridges and hearing loss suggested a filaminopat...
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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: |
S. Karger AG
2011
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3214959/ https://ncbi.nlm.nih.gov/pubmed/22190899 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000330111 |
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