Guidelines for reporting clinical features in cases with MECP2 mutations
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...
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| Veröffentlicht in: | Brain & development (Tokyo. 1979) 2001-07, Vol.23 (4), p.208-211 |
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| container_title | Brain & development (Tokyo. 1979) |
| container_volume | 23 |
| creator | Kerr, Alison M. Nomura, Yoshiko Armstrong, Dawna Anvret, Maria Belichenko, Pavel V. Budden, Sarojini Cass, Hilary Christodoulou, John Clarke, Angus Ellaway, Carolyn d'Esposito, Maurizio Francke, Uta Hulten, Maj Julu, Peter Leonard, Helen Naidu, Sakkubai Schanen, Carolyn Webb, Tessa Engerstrom, Ingegerd Witt Yamashita, Yushiro Segawa, Masaya |
| description | 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. |
| doi_str_mv | 10.1016/S0387-7604(01)00193-0 |
| format | Article |
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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.</description><subject>Brain development</subject><subject>Chromosomal Proteins, Non-Histone</subject><subject>DNA-Binding Proteins - genetics</subject><subject>Dosage Compensation, Genetic</subject><subject>Female</subject><subject>Humans</subject><subject>Male</subject><subject>MECP2 mutations</subject><subject>Methyl-CpG-Binding Protein 2</subject><subject>Mutation - genetics</subject><subject>Phenotype</subject><subject>Repressor Proteins</subject><subject>Rett Syndrome</subject><subject>Rett Syndrome - diagnosis</subject><subject>Rett Syndrome - genetics</subject><issn>0387-7604</issn><issn>1872-7131</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2001</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkMlOwzAQhi0EomV5BFBOCA6BmWyOTwhVpUUqAoneLceegFGWYicg3p50ERw5zWjmG__yx9gZwjUCZjcvEOc85Bkkl4BXACjiEPbYGHMehRxj3GfjX2TEjrx_h4GKEA7ZCDHmmRB8zOaz3hqqbEM-KFsXOFq1rrPNa6CHodWqCkpSXe-GvW0CrfzQfNnuLXicTp6joO471dm28SfsoFSVp9NdPWbL--lyMg8XT7OHyd0i1AkmXYjEsSwKobRBRMoKY8BkGjLBI4FUEuV5aowqRAIiBoOxEFGaYgaZERziY3axfXbl2o-efCdr6zVVlWqo7b3kkHOeJjiA6RbUrvXeUSlXztbKfUsEuTYoNwblWo8ElBuDch1wvgvoi5rM39VO2QDcbgEafvlpyUmvLTWajHWkO2la-0_ED-ndf64</recordid><startdate>20010701</startdate><enddate>20010701</enddate><creator>Kerr, Alison M.</creator><creator>Nomura, Yoshiko</creator><creator>Armstrong, Dawna</creator><creator>Anvret, Maria</creator><creator>Belichenko, Pavel V.</creator><creator>Budden, Sarojini</creator><creator>Cass, Hilary</creator><creator>Christodoulou, John</creator><creator>Clarke, Angus</creator><creator>Ellaway, Carolyn</creator><creator>d'Esposito, Maurizio</creator><creator>Francke, Uta</creator><creator>Hulten, Maj</creator><creator>Julu, Peter</creator><creator>Leonard, Helen</creator><creator>Naidu, Sakkubai</creator><creator>Schanen, Carolyn</creator><creator>Webb, Tessa</creator><creator>Engerstrom, Ingegerd Witt</creator><creator>Yamashita, Yushiro</creator><creator>Segawa, Masaya</creator><general>Elsevier B.V</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope><scope>8BM</scope></search><sort><creationdate>20010701</creationdate><title>Guidelines for reporting clinical features in cases with MECP2 mutations</title><author>Kerr, Alison M. ; 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| fulltext | fulltext |
| identifier | ISSN: 0387-7604 |
| ispartof | Brain & development (Tokyo. 1979), 2001-07, Vol.23 (4), p.208-211 |
| issn | 0387-7604 1872-7131 |
| language | eng |
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| source | MEDLINE; Elsevier ScienceDirect Journals |
| subjects | Brain development Chromosomal Proteins, Non-Histone DNA-Binding Proteins - genetics Dosage Compensation, Genetic Female Humans Male MECP2 mutations Methyl-CpG-Binding Protein 2 Mutation - genetics Phenotype Repressor Proteins Rett Syndrome Rett Syndrome - diagnosis Rett Syndrome - genetics |
| title | Guidelines for reporting clinical features in cases with MECP2 mutations |
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