Polymicrogyria and absence of pineal gland due toPAX6 mutation
| العنوان: | Polymicrogyria and absence of pineal gland due toPAX6 mutation |
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| المؤلفون: | Isabel M. Hanson, Kathleen A. Williamson, Simon Shorvon, Veronica van Heyningen, Samantha L. Free, Anthony T. Moore, Sanjay M. Sisodiya, Tejal N. Mitchell, Amanda J. Churchill, John M. Stevens |
| المصدر: | Annals of Neurology. 53:658-663 |
| بيانات النشر: | Wiley, 2003. |
| سنة النشر: | 2003 |
| مصطلحات موضوعية: | Adult, Male, endocrine system, Pathology, medicine.medical_specialty, Adolescent, PAX6 Transcription Factor, DNA Mutational Analysis, Unilateral polymicrogyria, medicine.disease_cause, Pineal Gland, Pineal gland, Epilepsy, medicine, Polymicrogyria, Humans, Paired Box Transcription Factors, Point Mutation, Abnormalities, Multiple, Eye Proteins, Aged, Homeodomain Proteins, Mutation, business.industry, Brain, Human brain, Middle Aged, medicine.disease, Magnetic Resonance Imaging, Repressor Proteins, medicine.anatomical_structure, Neurology, Cerebral cortex, Female, Neurology (clinical), PAX6, business, Neuroscience |
| الوصف: | Identification of genes involved in human cerebral development is important for our understanding of disorders with potential neurodevelopmental causes such as epilepsy and learning disability. Murine models suggest that PAX6 plays a key role in human brain development. With magnetic resonance imaging in 24 humans heterozygous for defined PAX6 mutations, we demonstrated widespread structural abnormalities including absence of the pineal gland and unilateral polymicrogyria. |
| تدمد: | 1531-8249 0364-5134 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a27d62b8af5c40662ad37d4e114ae61Test https://doi.org/10.1002/ana.10576Test |
| حقوق: | CLOSED |
| رقم الانضمام: | edsair.doi.dedup.....3a27d62b8af5c40662ad37d4e114ae61 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 15318249 03645134 |
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