Article
Study of MECP2 gene in Rett syndrome variants and autistic girls.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics - 15 May 2003
Zappella Michele, Meloni Ilaria, Longo Ilaria, Canitano Roberto, Hayek Giuseppe, Rosaia Lucia, Mari Francesca, Renieri Alessandra
Abstract excerpt
Mutations in MECP2 gene account for approximately 80% of cases of Rett syndrome (RTT), an X-linked severe developmental disorder affecting young girls, as well as for most cases of Preserved Speech Variant (PSV), a mild RTT variant in which autistic behavior is common. The aim of this study is to determine whether MECP2 mutations are responsible for PSV only or may cause other forms of autistic disorders. We...
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