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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 Craniosyno...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1313521375

Heterozygous Mutations of FREM1 Are Associated with an Increased Risk of Isolated Metopic Craniosynostosis in Humans and Mice

About this item

Full title

Heterozygous Mutations of FREM1 Are Associated with an Increased Risk of Isolated Metopic Craniosynostosis in Humans and Mice

Publisher

United States: Public Library of Science

Journal title

PLoS genetics, 2011-09, Vol.7 (9), p.e1002278

Language

English

Formats

Publication information

Publisher

United States: Public Library of Science

More information

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

Identifiers

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

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