Should a syndrome be called by its correct name? The example of the preserved speech variant of Rett syndrome

Zeitschrift für Kinderheilkunde - Tập 164 - Trang 710-710 - 2005
Michele Zappella1, Francesca Mari2, Alessandra Renieri2
1Child Neuropsychiatry, Azienda Ospedaliera Senese, Siena, Italy
2Medical Genetics, Department of Molecular Biology, University of Siena, Siena, Italy

Tài liệu tham khảo

Oexle K, Thamm-Mucke B, Mayer T, Tinschert S (2005) Macrocephalic mental retardation associated with a novel C-terminal MECP2 frameshift deletion. Eur J Pediatr 164:154–157 Zappella M, Meloni I, Longo I, Hayek G, Renieri A (2001) Preserved speech variants of the Rett syndrome: molecular and clinical analysis. Am J Med Genet 104:14–22 Zappella M, Meloni I, Longo I, Canitano R, Hayek G, Rosaia L, Mari F, Renieri A (2003) Study of MECP2 gene in Rett syndrome variants and autistic girls. Am J Med Genet 119B:102–107