KS Research & Studies
Kleefstra syndrome and mental health
As a parent of a child with Kleefstra syndrome, one of my greatest fears is the future, having read about the syndrome and the psychiatric issues ...New paper published by Marco Benevento
Marco Benevento (guest speaker at the 2013 conference) has had a new paper published called ‘Histone Methylation by the Kleefstra Syndrome Protein EHMT1 Mediates Homeostatic Synaptic ...Karlijn Vermeulen – new paper published
Karlijn Vermeulen (guest speaker of the 2015 conference) has had a new paper published called ‘From a single gene defect towards a cross species neurocognitive phenotype: ...GeneReviews update
GeneReviews, are an international point-of-care resource for busy clinicians, provides clinically relevant and medically actionable information for inherited conditions in a standardised journal-style format, covering diagnosis, ...Intragenic Duplication
A case report posted on Molecular Cytogenetics section of BioMed Central has reported the first description on an intragenic duplication of EHMT1 resulting in Kleefstra syndrome. ...Phenotyping the EHMT1 Mouse
An interesting article written by Monique Balemans titled “Phenotyping the EHMT1 Mouse – a model for Kleefstra syndrome. Kleefstra syndrome (KS) is a form of syndromic ...Unique Study Weekend 2010
In April 2010 Unique hosted a weekend event for families of children with Ks. The weekend provided a rare opportunity for parents to get together, to ...Unique KS Leaflet
Unique updated their leaflet after the 2010 study day held in the UK. Download PDF
