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Deletion of 8p23.1 with features of Cornelia de Lange syndrome and congenital diaphragmatic hernia and a review of deletions of 8p23.1 to 8pter ? A further locus for Cornelia de Lange syndrome

Baynam, G., Goldblatt, J. and Walpole, I. (2008) Deletion of 8p23.1 with features of Cornelia de Lange syndrome and congenital diaphragmatic hernia and a review of deletions of 8p23.1 to 8pter ? A further locus for Cornelia de Lange syndrome. American Journal of Medical Genetics Part A, 146A (12). pp. 1565-1570.

Link to Published Version: http://dx.doi.org/10.1002/ajmg.a.32095
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Abstract

Cornelia de Lange syndrome (CdLS) is characterized by facial dysmorphism; hirsutism; internal organ anomalies, including diaphragmatic hernia, and limb defects. While causative mutations in three genes have been identified the etiology of a significant number of cases remains unknown. We report on a child with an 8p23.1 deletion with features of CdLS and congenital diaphragmatic hernia. We review cases with cytogenetic anomalies involving 8p23.1, discuss a potential relationship between 8p23.1 deletions and CdLS and suggest a novel candidate gene for CdLS—Tankyrase 1.

Item Type: Journal Article
Publisher: Wiley-Liss Inc
Copyright: © 2008 Wiley-Liss, Inc.
URI: http://researchrepository.murdoch.edu.au/id/eprint/25233
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