Ontology highlight
ABSTRACT:
SUBMITTER: Noruzinia M
PROVIDER: S-EPMC3168138 | biostudies-literature | 2007 Sep
REPOSITORIES: biostudies-literature
Indian journal of human genetics 20070901 3
Rett syndrome is a rare genetic X-linked dominant disorder. This syndrome is the most frequent cause of mental retardation in girls. In the classical form of the disease, the presenting signs and the course of development are characteristic. However clinical diagnosis can be very difficult when the expression is not in the classical form. Mutations in MeCP2 are responsible for 80% of cases. When MeCP2 mutation is found in an index case, genetic counseling is similar to that in other X-linked dom ...[more]