Altered Attainment of Developmental Milestones Influences the Age of Diagnosis of Rett Syndrome

Atypical presentations and specific genotypes are associated with a delay in diagnosis in females with Rett syndrome

(2010) Stephanie Fehr et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Rett syndrome: Revised diagnostic criteria and nomenclature

(2010) Jeffrey L. Neul et al.   ANNALS OF NEUROLOGY

Genotype-phenotype correlation in Brazillian Rett syndrome patients

(2010) Fernanda T. de Lima et al.   ARQUIVOS DE NEURO-PSIQUIATRIA

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

(2009) A. Bebbington et al.   JOURNAL OF MEDICAL GENETICS

Specific mutations in Methyl-CpG-Binding Protein 2 confer different severity in Rett syndrome

(2008) J. L. Neul et al.   NEUROLOGY

Investigating genotype-phenotype relationships in Rett syndrome using an international data set

(2008) A. Bebbington et al.   NEUROLOGY