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FOXG1-Related Disorders: From Clinical Description to Molecular Genetics

Rett syndrome (RTT) is a severe neurodevelopmental disease that affects approximately 1 in 10,000 live female births and is often caused by mutations in the X-linked gene encoding methyl-CpG-binding protein 2 (MECP2). Mutations in loci other than MECP2 have also been found in individuals that have b...

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Autors principals: Florian, C., Bahi-Buisson, N., Bienvenu, T.
Format: Artigo
Idioma:Inglês
Publicat: S. Karger AG 2012
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3366704/
https://ncbi.nlm.nih.gov/pubmed/22670136
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000327329
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