Heterozygous Mutations of FREM1 Are Associated with an Increased Risk of Isolated Metopic Craniosyno...
Heterozygous Mutations of FREM1 Are Associated with an Increased Risk of Isolated Metopic Craniosynostosis in Humans and Mice
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Author / Creator
Vissers, Lisenka E. L. M. , Cox, Timothy C. , Maga, A. Murat , Short, Kieran M. , Wiradjaja, Fenny , Janssen, Irene M. , Jehee, Fernanda , Bertola, Debora , Liu, Jia , Yagnik, Garima , Sekiguchi, Kiyotoshi , Kiyozumi, Daiji , van Bokhoven, Hans , Marcelis, Carlo , Cunningham, Michael L. , Anderson, Peter J. , Boyadjiev, Simeon A. , Passos-Bueno, Maria Rita , Veltman, Joris A. , Smyth, Ian , Buckley, Michael F. and Roscioli, Tony
Publisher
United States: Public Library of Science
Journal title
Language
English
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Publisher
United States: Public Library of Science
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Scope and Contents
Contents
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 responsible for the trigonocephaly component of the 9p22.3...
Alternative Titles
Full title
Heterozygous Mutations of FREM1 Are Associated with an Increased Risk of Isolated Metopic Craniosynostosis in Humans and Mice
Authors, Artists and Contributors
Author / Creator
Cox, Timothy C.
Maga, A. Murat
Short, Kieran M.
Wiradjaja, Fenny
Janssen, Irene M.
Jehee, Fernanda
Bertola, Debora
Liu, Jia
Yagnik, Garima
Sekiguchi, Kiyotoshi
Kiyozumi, Daiji
van Bokhoven, Hans
Marcelis, Carlo
Cunningham, Michael L.
Anderson, Peter J.
Boyadjiev, Simeon A.
Passos-Bueno, Maria Rita
Veltman, Joris A.
Smyth, Ian
Buckley, Michael F.
Roscioli, Tony
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Primary Identifiers
Record Identifier
TN_cdi_plos_journals_1313521375
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1313521375
Other Identifiers
ISSN
1553-7404,1553-7390
E-ISSN
1553-7404
DOI
10.1371/journal.pgen.1002278