Genotype-phenotype correlation in Brazillian Rett syndrome patients Correlação genótipo-fenótipo em pacientes brasileiras com síndrome de Rett
BACKGROUND: Rett syndrome (RS) is a severe neurodevelopmental X-linked dominant disorder caused by mutations in the MECP2 gene. PURPOSE: To search for point mutations on the MECP2 gene and to establish a correlation between the main point mutations found and the phenotype. METHOD: Clinical evaluatio...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Academia Brasileira de Neurologia (ABNEURO)
2009-09-01
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| Series: | Arquivos de Neuro-Psiquiatria |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2009000400001 |