Guidelines for reporting clinical features in cases with MECP2 mutations

Authors
Kerr, AM Nomura, Y Armstrong, D Anvret, M Belichenko, PV Budden, S Cass, H Christodoulou, J Clarke, A Ellaway, C d'Esposito, M Francke, U Hulten, M Julu, P Leonard, H Naidu, S Schanen, C Webb, T Engerstrom, IW Yamashita, Y Segawa, M
Citation
Am. Kerr et al., Guidelines for reporting clinical features in cases with MECP2 mutations, BRAIN DEVEL, 23(4), 2001, pp. 208-211
Citations number
20
Categorie Soggetti
Neurology,"Neurosciences & Behavoir
Journal title
BRAIN & DEVELOPMENT
ISSN journal
03877604 → ACNP
Volume
23
Issue
4
Year of publication
2001
Pages
208 - 211
Database
ISI
SICI code
0387-7604(200107)23:4<208:GFRCFI>2.0.ZU;2-D
Abstract
An international group recommends that papers relating phenotypes to genoty pes involving mutations in the X chromosome gene MECP2 should provide a min imum 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 whic h should prompt screening for MECP2 mutations. (C) 2001 Elsevier Science B. V. All rights reserved.