Article
Another model for the inheritance of Rett syndrome.
American journal of medical genetics - 1 May 1990
Bühler E M, Malik N J, Alkan M
Abstract excerpt
The fact that probably less than 1% of Rett syndrome cases are familial speaks in favor of a spontaneous mutation as the most common cause of Rett syndrome. However, the few familial cases (about 10) described in the literature, the elevated consanguinity rate in parents of Rett patients (2.4% vs...
Topics
- Alleles
- Consanguinity
- Female
- Genotype
- Humans
- Male
- Models, Genetic
- Mutation
- Phenotype
- Rett Syndrome
- X Chromosome
