Patients with the R133C mutation: is their phenotype different from patients with Rett syndrome with other mutations?

H Leonard

doi:10.1136/jmg.40.5.e52

Patients with the R133C mutation: is their phenotype different from patients with Rett syndrome with other mutations?

H Leonard

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Journal: Journal of Medical Genetics	Publication Date: May 1, 2003
Citations: 79

#Loss Of Purposeful Hand Use #Rett Syndrome #Deceleration Of Head Growth #Purposeful Hand Use #Females In Australia #methyl-CpG-binding Protein 2 #Stereotypic Hand Movements #Truncating Mutations #R133C Mutation #Milder Phenotype

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Rett syndrome is an X linked dominant neurodevelopmental disorder with an incidence of 1:10 000 females in Australia.1 It is characterised by apparently normal development between 6 and 18 months,...

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Patients with the R133C mutation: is their phenotype different from patients with Rett syndrome with other mutations?