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Guidelines for reporting clinical features in cases with MECP2 mutations

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UNSPECIFIED (2001) Guidelines for reporting clinical features in cases with MECP2 mutations. BRAIN & DEVELOPMENT, 23 (4). pp. 208-211. ISSN 0387-7604

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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. (C) 2001 Elsevier Science B.V. All rights reserved.

Item Type: Journal Article
Subjects: R Medicine > RC Internal medicine > RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry
Journal or Publication Title: BRAIN & DEVELOPMENT
Publisher: ELSEVIER SCIENCE BV
ISSN: 0387-7604
Date: July 2001
Volume: 23
Number: 4
Number of Pages: 4
Page Range: pp. 208-211
Publication Status: Published
URI: http://wrap.warwick.ac.uk/id/eprint/12103

Data sourced from Thomson Reuters' Web of Knowledge

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