New rare disease characterized by own facial features, cardiac defects and developmental delay

by Universitat de Barcelona

4 years ago
New rare, facial features, cardiac defects, intellectual disability

An international multicentre study describes a rare disease characterized by a series of recognizable facial features, cardiac defects and intellectual disability, which they propose to name as TRAF7 ...

Discovered a cause of intellectual disability and autism

by Universitat de Barcelona

9 years ago
intellectual disability, JMJD1C gene, autism

The study has analysed 215 cases of patients with intellectual disability, autism or Rett Syndrome without a known genetic defect. “The aim was to determine if we were able to find a molecular cause...