[Rett syndrome: 50 years' history of a still not well known condition].

Abstract excerpt

Since it was first described by Andrea Rett 50 years ago, Rett syndrome (RS) has been the subject of further investigations, nonetheless it continues to be a not well known condition. Our own experience and an updated literature review on RS is presented. RS is a severe dominant X chromosome-linked neurodevelopmental disorder with a characteristic clinical picture that mostly occurs in girls, most of the cases...

Topics

• Animals
• Disease Models, Animal
• Female
• Humans
• Male
• Methyl-CpG-Binding Protein 2
• Mutation
• Protein Serine-Threonine Kinases
• Rats
• Rett Syndrome