SOX5-Null Heterozygous Mutation in a Family with Adult-Onset Hyperkinesia and Behavioral Abnormalities

SOX5 encodes a conserved transcription factor implicated in cell-fate decisions of the neural lineage. SOX5 haploinsufficiency induced by larger genomic deletions has been linked to a recognizable pediatric syndrome combining developmental delay with intellectual disability, mild dysmorphism, inadeq...

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Detalles Bibliográficos
Autores principales: Zech, Michael, Poustka, Katharina, Boesch, Sylvia, Berutti, Riccardo, Strom, Tim M., Grisold, Wolfgang, Poewe, Werner, Winkelmann, Juliane
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5682053/
https://www.ncbi.nlm.nih.gov/pubmed/29214085
http://dx.doi.org/10.1155/2017/2721615

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5682053/
https://www.ncbi.nlm.nih.gov/pubmed/29214085
http://dx.doi.org/10.1155/2017/2721615

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