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July 14, 2003Human MutationOpen Access

Gross rearrangements in theMECP2 gene in three patients with rett syndrome: Implications for routine diagnosis of Rett syndrome

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Authors

ESEls SchollenKU LeuvenESE. SmeetsMaastricht University Medical CentreEDE. Deflem

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Schollen et al. (2003) studied this question.

synapsesocial.com/papers/6ab32559dd4e07e560c8e7f4https://doi.org/10.1002/humu.10242
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Also Consider

Synapse has enriched 2 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: Report of 35 cases1983 · 1,533 citations
  2. 2RettBASE: The IRSA MECP2 variation database—a new mutation database in evolution2003 · 173 citations