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Cornelia de Lange Syndrome with NIPBL Gene Mutation: A Case Report
Cornelia de Lange Syndrome (CdLS) is a multiple congenital anomaly characterized by distinctive facial features, upper limb malformations, growth and cognitive retardation. The diagnosis of the syndrome is based on the distinctive clinical features. The etiology is still not clear. Mutations in the...
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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: |
The Korean Academy of Medical Sciences
2010
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2995242/ https://ncbi.nlm.nih.gov/pubmed/21165303 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3346/jkms.2010.25.12.1821 |
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