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Brain Dev. 2001 Jul;23(4):208-11.

Guidelines for reporting clinical features in cases with MECP2 mutations.

Author information

1
Department of Psychological Medicine, Gartnavel Royal Hospital, G12 0XH, Glasgow, UK.

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.

PMID:
11376997
DOI:
10.1016/s0387-7604(01)00193-0
[Indexed for MEDLINE]

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