Article
MECP2 deletions and genotype-phenotype correlation in Rett syndrome.
American journal of medical genetics. Part A - 1 Dec 2007
Scala Elisa, Longo Ilaria, Ottimo Federica, Speciale Caterina, Sampieri Katia, Katzaki Eleni, Artuso Rosangela, Mencarelli Maria Antonietta, D'Ambrogio Tatiana, Vonella Giuseppina, Zappella Michele, Hayek Giuseppe, Battaglia Agatino, Mari Francesca, Renieri Alessandra, Ariani Francesca
Abstract excerpt
Rett syndrome is a neurodevelopmental disorder that represents one of the most common genetic causes of mental retardation in girls. MECP2 point mutations in exons 2-4 account for about 80% of classic Rett cases and for a lower percentage of variant patients. We investigated the genetic cause in 77 mutation-negative Rett patients (33 classic, 31 variant, and 13 Rett-like cases) by searching missed MECP2 defects....
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