MECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous mother
Publié dansBrain & development, vol. 29, no. 1, p. 47-50
Date de publication2007
Résumé
Mots-clés
- Adult
- Child, Preschool
- DNA Mutational Analysis
- Female
- Gene Deletion
- Gene Frequency/genetics
- Genetic Diseases, X-Linked/ genetics
- Genetic Predisposition to Disease/ genetics
- Genetic Testing
- Heterozygote
- Humans
- Inheritance Patterns/ genetics
- Male
- Methyl-CpG-Binding Protein 2/ genetics
- Mothers
- Mutation/ genetics
- Penetrance
- Phenotype
- Rett Syndrome/diagnosis/ genetics
- X Chromosome Inactivation/genetics
Citation (format ISO)
DAYER, Alexandre et al. MECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous mother. In: Brain & development, 2007, vol. 29, n° 1, p. 47–50. doi: 10.1016/j.braindev.2006.06.001
Fichiers principaux (1)
Article
Identifiants
- PID : unige:8702
- DOI : 10.1016/j.braindev.2006.06.001
- PMID : 16844334
ISSN du journal0387-7604