Guideline
doi: 10.1016/s0387-7604(01)00193-0.
Guidelines for reporting clinical features in cases with MECP2 mutations
Affiliations
- PMID: 11376997
- DOI: 10.1016/s0387-7604(01)00193-0
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Guideline
Guidelines for reporting clinical features in cases with MECP2 mutations
Brain Dev.
2001 Jul.
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.
Comment in
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Guidelines for reporting clinical features in cases with MECP2 mutations, by Allison Kerr and an international group.Brain Dev. 2001 Jul;23(4):269. doi: 10.1016/s0387-7604(01)00207-8. Brain Dev. 2001. PMID: 11428354 No abstract available.
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