Guidelines for reporting clinical features in cases with MECP2 mutations

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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Zusammenfassung: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.
ISSN:0387-7604
1872-7131
DOI:10.1016/S0387-7604(01)00193-0