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Cornelia de Lange Syndrome: A Newborn with Imperforate Anus and a NIPBL Mutation
Cornelia de Lange syndrome is a dominantly inherited, genetically heterogeneous and clinically variable syndrome with multiple congenital anomalies and developmental delay. Gastrointestinal anomalies are common and an important cause of morbidity and mortality. We report on a newborn with a molecula...
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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: |
Hindawi Publishing Corporation
2012
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3529426/ https://ncbi.nlm.nih.gov/pubmed/23304577 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2012/247683 |
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