Very mild cases of Rett syndrome with skewed X inactivation.
Huppke, P.; Maier, E. M.; Warnke, A.; Brendel, C.; Laccone, F.; Gärtner, J.; Journal of Medical Genetics, 2006, vol. 43, issue 10, p 814, ISSN 00222593. ISBN 14686244.

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