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, ...

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. ...

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 ...

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 updated their leaflet after the 2010 study day held in the UK. Download PDF