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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Detalles Bibliográficos
Autores principales: Mende, Rose H., Drake, David P., Olomi, Raimos M., Hamel, Ben C. J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2012
Materias:
Case Report
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

Internet

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

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