Journal article

Refining the phenotype of common mutations in Rett syndrome

L Colvin, H Leonard, N De Klerk, M Davis, L Weaving, S Williamson, J Christodoulou

Journal of Medical Genetics | BMJ PUBLISHING GROUP | Published : 2004

DOI: 10.1136/jmg.2003.011130

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Keywords

Japanese Patients
3202 Clinical Sciences
Mecp2 Mutations
Natural-History
Girls
Genetics & Heredity
X-Chromosome Inactivation
Location
Cpg-Binding Protein-2
Severity
31 Biological Sciences
Gene
32 Biomedical and Clinical Sciences
Variants
Science & Technology
3105 Genetics
Life Sciences & Biomedicine