Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice.

Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice.

The premature fusion of the paired frontal bones results in metopic craniosynostosis (MC) and gives rise to the clinical phenotype of trigonocephaly. Deletions of chromosome 9p22.3 are well described as a cause of MC with variably penetrant midface hypoplasia. In order to identify the gene responsib...

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Bibliographic Details
Main Authors: Lisenka E L M Vissers, Timothy C Cox, A Murat Maga, Kieran M Short, Fenny Wiradjaja, Irene M Janssen, Fernanda Jehee, Debora Bertola, Jia Liu, Garima Yagnik, Kiyotoshi Sekiguchi, Daiji Kiyozumi, Hans van Bokhoven, Carlo Marcelis, Michael L Cunningham, Peter J Anderson, Simeon A Boyadjiev, Maria Rita Passos-Bueno, Joris A Veltman, Ian Smyth, Michael F Buckley, Tony Roscioli
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2011-09-01
Series:PLoS Genetics
Online Access:http://europepmc.org/articles/PMC3169541?pdf=render

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http://europepmc.org/articles/PMC3169541?pdf=render

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