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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Xehetasun bibliografikoak
Egile Nagusiak: 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., Roscioli, Tony
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Public Library of Science 2011
Gaiak:
Research Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC3169541/
https://ncbi.nlm.nih.gov/pubmed/21931569
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1002278
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