Article
Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice.
PLoS genetics - 1 Sept 2011
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
Abstract excerpt
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 syndrome, a cohort of 109 patients were assessed by...
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