Abstract
An international group recommends that papers relating phenotypes to genotypes involving mutations in the X chromosome gene MECP2 should provide a minimum data set reporting the range of disturbances frequently encountered in Rett Syndrome. A simple scoring system is suggested which will facilitate comparison among the various clinical profiles. Features are described which should prompt screening for MECP2 mutations.
Original language | English (US) |
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Pages (from-to) | 208-211 |
Number of pages | 4 |
Journal | Brain and Development |
Volume | 23 |
Issue number | 4 |
DOIs | |
State | Published - Jul 2001 |
Keywords
- Brain development
- MECP2 mutations
- Rett Syndrome
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Developmental Neuroscience
- Clinical Neurology