Guidelines for reporting clinical features in cases with MECP2 mutations-Reference-Cited by-同舟云学术

Guidelines for reporting clinical features in cases with MECP2 mutations

Published:2001-07 Issue:4 Volume:23 Page:208-211
ISSN:0387-7604
Container-title:Brain and Development
language:en
Short-container-title:Brain and Development

Author:

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

Publisher

Elsevier BV

Subject

Clinical Neurology,Developmental Neuroscience,General Medicine,Pediatrics, Perinatology, and Child Health

Reference20 articles.

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2. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2;Amir;Nat Genet,1999

3. MECP2 is a transcriptional repressor with abundant binding sites in genomic chromatin;Nan;Cell,1997

4. Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location;Cheadle;Hum Mol Genet,2000

5. Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome;Obata;J Med Genet,2000

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