Updating the profile of C-terminal MECP2 deletions in Rett syndrome

This study aimed to compare the phenotype of Rett syndrome cases with C-terminal deletions to that of cases with different MECP2 mutations

Authors:
Bebbington A, Percy A, Christodoulou J, Ravine D, Ho G, Jacoby P, Anderson A, Pineda M, Ben Zeev B, Bahi-Buisson N, Smeets E, Leonard H

Authors notes:
Journal of Medical Genetics. 2010; 47(4):242-248

Keywords:
phenotype of Rett syndrome, C-terminal deletions, MECP2 mutations, phenotypic variation, C-terminal deletions

Abstract:
This study aimed to compare the phenotype of Rett syndrome cases with C-terminal deletions to that of cases with different MECP2 mutations and to examine the phenotypic variation within C-terminal deletions.