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PARK2 Microduplication: Clinical and Molecular Characterization of a Further Case and Review of the Literature
We report on a patient with psychomotor deficits, language delay, dyspraxia, skeletal anomalies, and facial dysmorphisms (hirsutism, right palpebral ptosis, a bulbous nasal tip with enlarged and anteverted nares, and a mild prominent antihelix stem). Using high-resolution SNP array analysis, we iden...
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| 出版年: | Mol Syndromol |
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| 主要な著者: | , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
S. Karger AG
2016
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5109987/ https://ncbi.nlm.nih.gov/pubmed/27867343 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000448852 |
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