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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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| Hoofdauteurs: | , , , |
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| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
Hindawi Publishing Corporation
2012
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| Onderwerpen: | |
| Online toegang: | 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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