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Updating the profile of C-terminal MECP2 deletions in Rett syndrome
OBJECTIVES: This study aimed to compare the phenotype of Rett syndrome cases with C-terminal deletions to that of cases with different MECP2 mutations and to examine the phenotypic variation within C-terminal deletions. METHODS: Cases were selected from InterRett, an international database and from...
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| Main Authors: | , , , , , , , , , , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
2009
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3913726/ https://ncbi.nlm.nih.gov/pubmed/19914908 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2009.072553 |
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