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Analysis of FOXG1 Is Highly Recommended in Male and Female Patients with Rett Syndrome
We screened a cohort of 5 male and 20 female patients with a Rett spectrum disorder for mutations in the coding region of FOXG1, previously shown to cause the congenital variant of Rett syndrome. Two de novo mutations were identified. The first was a novel missense mutation, p.Ala193Thr (c.577G>A...
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| Main Authors: | , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
S. Karger AG
2011
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3214958/ https://ncbi.nlm.nih.gov/pubmed/22190898 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000330755 |
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