Preserved speech variants of the Rett syndrome: molecular and clinical analysis.

  title={Preserved speech variants of the Rett syndrome: molecular and clinical analysis.},
  author={M. Zappella and I. Meloni and I. Longo and G. Hayek and A. Renieri},
  journal={American journal of medical genetics},
  volume={104 1},
Mutations in the MECP2 gene cause the severe neurodevelopmental disorder called Rett syndrome. Preliminary evidence suggests that MECP2 may be involved in a broader phenotype than classical Rett syndrome including preserved speech variants (PSV). Here we report clinical and mutation analysis of 18 PSV patients. Ten of them had a MECP2 mutation (55%). The clinical features of these girls have been characterized and two subgroups defined. All of them had slow recovery of verbal and praxic… Expand
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