Patients with the R133C mutation: is their phenotype different from patients with Rett syndrome with other mutations?

Helen Leonard; L. Colvin; J. Christodoulou; T. Schiavello; S. Williamson; M. Davis; David Ravine; S. Fyfe; Nicholas De Klerk; T. Matsuishi; I. Kondo; A. Clarke; S. Hackwell; Y. Yamashita

doi:10.1136/jmg.40.5.e52

Patients with the R133C mutation: is their phenotype different from patients with Rett syndrome with other mutations?

Helen Leonard, L. Colvin, J. Christodoulou, T. Schiavello, S. Williamson, M. Davis, David Ravine, S. Fyfe, Nicholas De Klerk, T. Matsuishi, I. Kondo, A. Clarke, S. Hackwell, Y. Yamashita

Research output: Contribution to journal › Review article › peer-review

76 Citations (Scopus)

Original language	English
Pages (from-to)	online - approx 5-10pp
Journal	Journal of Medical Genetics
Volume	40
Issue number	5
DOIs	https://doi.org/10.1136/jmg.40.5.e52
Publication status	Published - 2003

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10.1136/jmg.40.5.e52

Cite this

Leonard, H., Colvin, L., Christodoulou, J., Schiavello, T., Williamson, S., Davis, M., Ravine, D., Fyfe, S., De Klerk, N., Matsuishi, T., Kondo, I., Clarke, A., Hackwell, S., & Yamashita, Y. (2003). Patients with the R133C mutation: is their phenotype different from patients with Rett syndrome with other mutations? Journal of Medical Genetics, 40(5), online - approx 5-10pp. https://doi.org/10.1136/jmg.40.5.e52

@article{0365393e2cc542049673e05ab8f17f95,

title = "Patients with the R133C mutation: is their phenotype different from patients with Rett syndrome with other mutations?",

author = "Helen Leonard and L. Colvin and J. Christodoulou and T. Schiavello and S. Williamson and M. Davis and David Ravine and S. Fyfe and {De Klerk}, Nicholas and T. Matsuishi and I. Kondo and A. Clarke and S. Hackwell and Y. Yamashita",

year = "2003",

doi = "10.1136/jmg.40.5.e52",

language = "English",

volume = "40",

pages = "online -- approx 5--10pp",

journal = "Journal of Medical Genetics",

issn = "0022-2593",

publisher = "BMJ Publishing Group",