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CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms
Background: Rett syndrome is a severe neurodevelopmental disorder, almost exclusively affecting females and characterised by a wide spectrum of clinical manifestations. Both the classic form and preserved speech variant of Rett syndrome are due to mutations in the MECP2 gene. Several other variants...
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| 主要な著者: | , , , , , , , , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
BMJ Group
2005
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1735977/ https://ncbi.nlm.nih.gov/pubmed/15689447 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2004.026237 |
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