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...

Full description

Saved in:
Bibliographic Details
Main Authors: Rose H. Mende, David P. Drake, Raimos M. Olomi, Ben C. J. Hamel
Format: Article
Language:English
Published: Wiley 2012-01-01
Series:Case Reports in Genetics
Online Access:http://dx.doi.org/10.1155/2012/247683
Tags: Add Tag
No Tags, Be the first to tag this record!