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FOXG1 Mutation is a Low-Incidence Genetic Cause in Atypical Rett Syndrome

Due to the genetic and clinical heterogeneity of Rett syndrome, patients with nonclassic phenotypes are classified as an atypical Rett syndrome, that is, preserved speech variant, early seizure variant, and congenital variant. Respectively, MECP2, CDKL5, and FOXG1 have been found to be the causative...

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Detalles Bibliográficos
Autores principales: Byun, Christine K., Lee, Jin Sook, Lim, Byung Chan, Kim, Ki Joong, Hwang, Yong Seung, Chae, Jong-Hee
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5417036/
https://www.ncbi.nlm.nih.gov/pubmed/28503589
http://dx.doi.org/10.1177/2329048X14568151