Rett syndrome and long-term disorder profile
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference18 articles.
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2. Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes;Amir;Ann Neurol,2000
3. Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: Correlation of disease severity with mutation type and localisation;Cheadle;Hum Mol Genet,2000
4. Refining the phenotype of common mutations in Rett syndrome;Colvin;J Med Genet,2004
5. An update on clinically applicable diagnostic criteria in Rett syndrome. Comments to Rett Syndrome Clinical Criteria Consensus Panel Satellite to European Paediatric Neurology Society Meeting, Baden Baden, Germany, 11 September 2001;Hagberg;Eur J Paediatr Neurol,2002
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1. A review of the Rett Syndrome Behaviour Questionnaire and its utilization in the assessment of symptoms associated with Rett syndrome;Frontiers in Pediatrics;2023-07-28
2. Meaningful word acquisition is associated with walking ability over 10 years in Rett syndrome;Brain and Development;2020-11
3. MECP2 mutation spectrum and its clinical characteristics in a Chinese cohort;Clinical Genetics;2020-06-21
4. Atypical Rett syndrome in a girl with mosaic triple X and MECP2 variant;Molecular Genetics & Genomic Medicine;2020-01-13
5. Gross Motor, Physical Activity and Musculoskeletal Disorder Evaluation Tools for Rett Syndrome: A Systematic Review;Developmental Neurorehabilitation;2019-10-31
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