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.
Keywords
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Article info
Publication history
Accepted:
February 8,
2001
Received in revised form:
February 6,
2001
Received:
January 18,
2001
Identification
Copyright
© 2001 Elsevier Science B.V. Published by Elsevier Inc. All rights reserved.
