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Long QT, Syndactyly, Joint Contractures, Stroke and Novel CACNA1C Mutation: Expanding the Spectrum of Timothy Syndrome
Timothy syndrome (TS) is described as an autosomal dominant condition with the constellation of features including prolonged QT interval, hand and foot abnormalities and mental retardation or autism. Splawski et al. [2004] previously described two phenotypes associated with TS distinguished by two u...
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| Main Authors: | , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2011
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3319791/ https://ncbi.nlm.nih.gov/pubmed/22106044 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.34355 |
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