Guidelines for reporting clinical features in cases with MECP2 mutations

被引：124

作者：

Kerr, AM ^{[1
]}

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

机构：

[1] Gartnavel Royal Hosp, Dept Psychol Med, Glasgow G12 0XH, Lanark, Scotland

[2] Segawa Neurol Clin Children, Chiyoda Ku, Tokyo 1010062, Japan

[3] Baylor Coll Med, Dept Pathol, Houston, TX 77030 USA

[4] Karolinska Inst, Stockholm, Sweden

[5] Inst Brain Res, Moscow 107120, Russia

[6] Oregon Hlth & Sci Univ, Portland, OR 97201 USA

[7] Great Ormond St Hosp Sick Children, London WC1N 3JH, England

[8] Childrens Hosp Westmead, Dept Paediat & Child Hlth, Sydney, NSW, Australia

[9] Cardiff Univ, Dept Med Genet, Cardiff CF4 4XW, S Glam, Wales

[10] Stanford Univ, Sch Med, Howard Hughes Med Inst, Stanford, CA 94305 USA

[11] Stanford Univ, Sch Med, CNR Inst Genet & Biophys, Stanford, CA 94305 USA

[12] Univ Warwick, Dept Biol Sci, Coventry CV4 7AL, W Midlands, England

[13] Cent Middlesex Hosp, London NW10 7NS, England

[14] Kennedy Inst, Baltimore, MD 21205 USA

[15] TVW Telethon Inst Child Hlth, Res & Disabil Serv Commiss, Perth, WA, Australia

[16] Univ Calif Los Angeles, Sch Med, Dept Human Genet, Los Angeles, CA 90095 USA

[17] Birmingham Maternity Hosp, Dept Clin Genet, Birmingham B15 2TG, W Midlands, England

[18] Rett Ctr, SE-93223 Froson, Sweden

[19] Kurume Univ, Sch Med, Dept Pediat & Child Hlth, Fukuoka 8300011, Japan

来源：

BRAIN & DEVELOPMENT | 2001年 / 23卷 / 04期

关键词：

Rett syndrome; MECP2; mutations; brain development;

D O I：

10.1016/S0387-7604(01)00193-0

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：208 / 211

页数：4

共 20 条

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