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A Mutation in the Rett Syndrome Gene, MECP2, Causes X-Linked Mental Retardation and Progressive Spasticity in Males
Heterozygous mutations in the X-linked MECP2 gene cause Rett syndrome, a severe neurodevelopmental disorder of young females. Only one male presenting an MECP2 mutation has been reported; he survived only to age 1 year, suggesting that mutations in MECP2 are male lethal. Here we report a three-gener...
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| Auteurs principaux: | , , , , , , , , , |
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| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
The American Society of Human Genetics
2000
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1287900/ https://ncbi.nlm.nih.gov/pubmed/10986043 |
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