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Guideline
. 2001 Jul;23(4):208-11.
doi: 10.1016/s0387-7604(01)00193-0.

Guidelines for reporting clinical features in cases with MECP2 mutations

A M Kerr  1 , Y Nomura, D Armstrong, M Anvret, P V Belichenko, S Budden, H Cass, J Christodoulou, A Clarke, C Ellaway, M d'Esposito, U Francke, M Hulten, P Julu, H Leonard, S Naidu, C Schanen, T Webb, I W Engerstrom, Y Yamashita, M Segawa
Affiliations
Guideline

Guidelines for reporting clinical features in cases with MECP2 mutations

A M Kerr et al. 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.

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