Resources
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Survey Results 2018
The Kleefstra syndrome parent survey was carried out in June 2018 and was distributed over social media for parents or primary carers of people diagnosed with ... -
Kleefstra syndrome infographic
Here is a fantastic Kleefstra syndrome infographic you can show professionals who are triaging/working with your child – to tell them a bit about KS and ... -
Adaptive and maladaptive functioning in Ks
Karlijn Vermeulen (Pediatric psychiatrist and clinical researcher at Radboud UMC in Nijmegen) has had a new paper published called ‘Adaptive and maladaptive functioning in Kleefstra syndrome ... -
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 ... -
KS Conference 2015 Summary
In August 2015 we hosted our second conference in Coventry, UK. Once again we were fully booked with 37 families attending from around the world to learn ... -
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 ...
