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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Hindawi Publishing Corporation
2012
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3529426/ https://www.ncbi.nlm.nih.gov/pubmed/23304577 http://dx.doi.org/10.1155/2012/247683 |