Search for dissertations about: "MECP2 duplication syndrom"

Found 1 swedish dissertation containing the words MECP2 duplication syndrom.

2. 1. Genetic studies of children with mental retardation

   Author : Saideh Rajaei; Göteborgs universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Mental retardation; Rett syndrome; RTT; early onset infantile RTT; MECP2; SMR; SNP array; copy number variations; CNV; MECP2 duplication syndrom;

   Abstract : Mental retardation (MR) is characterised by significant limitations in intellectual function and adaptive behaviour. It is estimated that MR affects up to 3% of the population in Europe. Patients with MR are an aetiologically heterogeneous group. Approximately 25-35% of the patients have a genetic diagnosis. READ MORE