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Project: Identification of new genes for recessive forms of the Ehlers-Danlos syndrome (EDS)

project duration
01-OCT-09 – 30-SEP-11
abstract
Our aim is to identify new genes for recessive EDS-phenotypes by studying 2 consanguineous families with phenotypical characteristics of rare EDS-variants. More specifically, we aim to identify genetic defects through Next Generation sequencing of several candidate regions. Furthermore, we aim te delineate the role of recently discovered genes in patients with EDS-phenotypes lacking mutations in known disease causing genes.