Questionable pathogenicity of FOXG1 duplication
نویسندگان
چکیده
منابع مشابه
Genotyping FOXG1 Mutations in Patients with Clinical Evidence of the FOXG1 Syndrome.
Rett syndrome is a well-defined neurodevelopmental disorder comprising characteristic clinical features of gait abnormalities, loss of purposeful hand movements, stereotypies, and autistic features. Mutations in the FOXG1 gene have been associated with a congenital variant of Rett syndrome. This is a report on the outcome of routine genetic testing to identify FOXG1 mutations in a patient popul...
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Foxg1, a winged-helix transcription factor, promotes the development of anterior neural structures; in mice lacking Foxg1, development of the cerebral hemispheres and olfactory epithelium (OE) is severely reduced. It has been suggested that Foxg1 acts by positively regulating the expression of growth factors, such as Fgf8, which support neurogenesis. However, Foxg1 also binds Smad transcription...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2012
ISSN: 1018-4813,1476-5438
DOI: 10.1038/ejhg.2011.267