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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Main Authors: | , , , |
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Format: | Article |
Language: | English |
Published: |
Wiley
2012-01-01
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Series: | Case Reports in Genetics |
Online Access: | http://dx.doi.org/10.1155/2012/247683 |
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