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
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	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
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