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Rett Syndrome and Beyond: Recurrent Spontaneous and Familial MECP2 Mutations at CpG Hotspots
Rett syndrome (RTT) is a neurodevelopmental disorder characterized by loss of acquired skills after a period of normal development in infant girls. The responsible gene, encoding methyl-CpG binding protein 2 (MeCP2), was recently discovered. Here we explore the spectrum of phenotypes resulting from...
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| Główni autorzy: | , , , , , , , , , , , , |
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| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
The American
Society of Human Genetics
1999
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| Hasła przedmiotowe: | |
| Dostęp online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1288362/ https://ncbi.nlm.nih.gov/pubmed/10577905 |
| Etykiety: |
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