Article
Complex craniosynostosis is associated with the 2p15p16.1 microdeletion syndrome.
American journal of medical genetics. Part A - 1 Feb 2013
Florisson Joyce M G, Mathijssen Irene M J, Dumee Belinda, Hoogeboom Jeannette A M, Poddighe Pino J, Oostra Ben A, Frijns Jean Pierre, Koster Linda, de Klein Annelies, Eussen Bert, de Vries Bert B A, Swagemakers Sigrid, van der Spek Peter J, Verkerk Annemieke J M H
Abstract excerpt
In a screening project of patients with (complex) craniosynostosis using genomic arrays, we identified two patients with craniosynostosis and microcephaly with a deletion in the 2p15p16.1 chromosomal region. This region has been associated with a new microdeletion syndrome, for which patients hav...
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