Article
A RETT SYNDROME CASE WITH NOVEL NON-IDENTICAL MUTATION IN MECP2 GENE.
Genetic counseling (Geneva, Switzerland) - 1 Jan 2015
Güngör O, Kirik S, Cevizli D, Karaokur F, Ozer L, Uysal S, Dilber C
Abstract excerpt
The Rett syndrome (RTT; OMIM #312750) is a rare genetic disease observed predominantly among girls that affects neurological development. The incidence of this disorder is approximately 1 in 10,000 female births. Diagnosis of the RTT is based on specific clinical criteria and the identification of a mutation in the methyl-CpG-binding protein (MECP), which mainly occurs on exons 3 and 4 of the gene. Mutations in...
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