Keyphrases
Rett Syndrome
100%
Frameshift mutation
100%
Methyl-CpG-binding Protein 2 (MeCP2)
100%
Female Carrier
18%
Genetic Counseling
18%
Sporadic Cases
18%
X Chromosome
18%
Mutation Type
9%
Neurodevelopmental Disorders
9%
X-linked
9%
Intellectual Disability
9%
Intronic SNP
9%
Frameshift Deletion
9%
Chromosome 7
9%
Paternal Age Effect
9%
Newly Diagnosed
9%
Parent-of-origin
9%
MECP2 Gene
9%
De-novo mutations
9%
Paternal Origin
9%
Mutation Carriers
9%
Direct Sequencing
9%
Genotype-phenotype
9%
Androgen Receptor
9%
Clinical Features
9%
Cause of Disease
9%
Phenotypic Differences
9%
Biochemistry, Genetics and Molecular Biology
Rett Syndrome
100%
Frameshift Mutation
100%
Genetic Counseling
18%
X Chromosome
18%
C-Terminus
18%
Androgen Receptor
9%
Chromosome 7
9%
Single Nucleotide Polymorphism
9%
Paternal Age
9%